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Mutations of the CHM Gene

Mutation Map

last update: 14.07.2012

Helix The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon.

NCBI GenBank: 1121

Phenotype

Codon change

(Nucleotide change)

Sequence Exon Restriction site OMIM Remarks Reference
CHM Microdeletion del DXS349 - exon 8 01 - 08 Patients: LUN1

Deletion
link (38)
CHM Microdeletion del DXS110 - pJ15 01 - 15 Patients: LUN3

Deletion
link (38)
CHM Microdeletion
del DSX95 - DXS72 01 - 15 Patients: 042.00

Deletion
(26)
CHM Microdeletion del DXS110 - pJ7.6A 01 - 15 Patients: 25.6

Deletion
link (38)
CHM Microdeletion del DXS110 - DXS233 01 - 15 Patients: MBU, LGL2905

Deletion
link (38)
CHM Microdeletion del DXS1002 - pJ7.6A 01 - 15 Patients: MS

Deletion
link (38)
CHM Microdeletion del DXS95 - DXS165 01 - 15 Patients: 106.01

Deletion
(26)
CHM Translocation 46,X,t(X;7)(q21.2;p12) 01 - 15 Patients:
Translocation
link (39)
CHM Translocation 46,X,t(X;4)(q21;p16) 01 - 15 Patients: CHM288

Translocation
link (10)
CHM Translocation 46,X,t(X;13)(q21.2;p12) 01 - 15 Patients:
Translocation
link (39)
CHM Microdeletion del exon 1 - 8 01 - 08 Patients:
Deletion
(44)
CHM Microdeletion del exon 1 - DXS72 01 - 15 Patients: 111.01
pZ11 - p1bD5

Deletion
(26)
CHM Microdeletion del exon 1 - DXS165 01 - 15 Patients: 007.06

Deletion
link (38)
CHM Microdeletion del exon 1 - 15 01 - 15
Two branches with variant phenotypes

Deletion
link (23)
CHM Microdeletion del exon 1 - pJ36 01 - 15 Patients: C759

Deletion
link (38)
CHM Met 1 Ile
(c.3G>A)
AT G>A 01 -BccI, -EciI link (33)
CHM c.17delC GGG A C>_ G G gta 01
Effect: p.L6fs*11
link (20)
CHM Microdeletion Exon 2 02 Patients: CHM317

Deletion
link (10)
CHM Microdeletion del exon 2 - 3 02 - 03 Patients: AF link (6)
CHM c.49+5g>t G gtat g>t tgtag IVS01 link (40)
CHM c.49+1g>a ACG G g>a tatg IVS1
Japanese only
link (9)
CHM c.50-1g>c tgta g>c GT TTG IVS1
Japanese only
link (9)
CHM Ser 39 ter
(c.116C>A)
T C>A gtaag 02 link (43)
CHM Microdeletion del exon 3 - 9 03-09 link (14)
CHM c.116+1g>a GAT TC g>a taag IVS02 link (20)
link (14)
link (40)
CHM c.116+1g>t GAT TC g>t taag IVS02 +AflII, +SmiI, +MseI Patients: MG link (6)
CHM Microdeletion del exon 3 - 8 03 - 08 Patients: LGL1101 link (38)
link (20)
CHM Microdeletion del exon 3 - 15 03 - 15 Patients: 2082 link (30)
CHM Gly 44 ter
(c.130G>T)
G>T GA 03 +BfaI,-Sau96I link (20)
CHM Trp 47 ter
(c.140G>A)
T G>A G 03
Japanese only
link (9)
CHM Microdeletion Exon 3 - 4 03 - 04 Patients: CHM1098

Deletion
link (10)
CHM c.189+1g>a CAG g>a taaa IVS03 link (40)
link (10)
CHM c.190-2a>g gttt a>g g GAA IVS03 link (40)
CHM c.190-14t>g ttatc c>g gtgtt IVS3 Patients: FU link (38)
CHM Gln 76 ter
(c.226C>T)
C>T AA 04 link (42)
Polymorphism Ser 89 Cys
(c.265A>T)
A>T GC 04 +HpyCH4V, -DdeI link (35)
CHM c.293delT G T>_ G 04 -AflIII
Effect: V98Gfs*28
link (3)
CHM c.304delT GTA TTT T>_ GT 04 -AflIII
Effect: C102Vfs*24
link (4)
CHM Tyr 103 ter
(c.309T>G)
TA T>G 04 +HaeIII link (42)
link (10)
CHM c.314+10127ins98bp GCC AG ins L1 repeat T CAG IVS04 link (40)
CHM c.315_318delTCAG tag T CAG > _ ___ GAT 05 -BsrI Patients: CA
Japanese only
Effect: S105Rfs*20
link (9)
link (6)
link (20)
CHM Microdeletion del exon 5 - 8 05 - 08 link (20)
CHM Gln 106 ter C>T AG 05 -Hpy188III Patients: COU
French Canadian
link (21)
CHM c.529delG GGG G>_ AA AAA 05
Effect: E177Kfs*20
link (20)
Polymorphism Ala 117 Ala
(c.351A>G)
GC A>G 05 +HhaI, +HinGI, -ApaLI link (3)
(17)
link (37)
link (6)
link (35)
CHM c.372delT GGT CT T>_ GTG 05 link (13)
CHM c.525_526delAG GTG AC A G>_ _ GG GAA 05 Patients: FK
RN
Effect: E177Kfs*6
link (38)
link (6)
link (31)
link (20)
link (13)
link (33)
CHM Glu 177 ter
(c.529G>T)
G>T AA 05 link (3)
CHM c.529delG GGG G>_ AAA 05 link (20)
CHM c.549_557del9insAGTTTTCT TGT GA T GAT AAA AC>A GTT TTC T T TGT 05
Effect: E183Efs*14
link (20)
link (14)
CHM c.550_551dupGA GAT GA __>GA T AAA 05 Patients: PC
Effect: D184Efs*14
link (6)
CHM c.564delGC TGT GT G C>_ _ CA TCA 05
Japanese only
Effect: P189Ifs*9
link (9)
CHM c.563_564delTG 05 Effect: V188Afs*10 link (18)
CHM c.564_565delGC TGT G GC>__ CA TCA 05 -BccI
Effect: P189Ifs*9
link (9)
CHM Ser 190 ter
(c.569C>G)
T C>G A 05 link (20)
CHM c.582dupA GAA _>A GAC 05 Patients: BO
Effect: D195Rfs*4
link (38)
CHM Cys 500 ter
(c.582_>A)
GAA _>A GAC 05 Patients: BO
Effect: D195Rfs*4
link (38)
CHM Gln 209 ter
(c.625C>T)
C>T AA 05 +MaeIII
Japanese only
link (9)
CHM c.627dupA CAA _>A CCA 05
Effect: P210Tfs*13
link (46)
CHM c.641_642delGA AAC A GA>__ ATT 05 Patients: CHM889
Effect: p.R214Nfs*8
link (10)
CHM c.652_655delTCAC ACT TAC TAC TCA C>___ _ AA ATT 05 Patients: 103.03
GF
Effect: S218Kfs*13
(26)
link (6)
link (46)
link (20)
link (40)
CHM Lys 234 ter
(c.700A>T)
A>T AG 05 link (33)
CHM Microdeletion del Exon 6 - 7 06 - 07 link (33)
CHM Microdeletion del exon 6 - 7 06 - 07 Patients: SM link (6)
CHM c.703-1g>c taca g>c CTG IVS05 link (46)
CHM Arg 239 ter
(c.715C>T)
C>T GA 06 -TaqI, -XhoI Patients: 005.1; 025.23 (25)
link (20)
link (45)
link (40)
CHM c.726_727delAAinsT CT A A>_ T TT 06
Effect: p.I243Lfs*4
link (20)
CHM c.748delA TCT A>_ AT 06 Patients: P23.807
Effect: I260Lfs*31
link (39)
CHM Arg 253 ter
(c.757C>T)
C>T GA 06 -TaqI Patients: ES link (6)
link (8)
link (15)
link (20)
link (14)
CHM Tyr 254 ter
(c.762T>G)
TA T>G 06 Patients: 014.01 (26)
CHM c.768delG GA G>_ TTT 06
Effect: p.E256Dfs*35
link (20)
CHM Arg 267 ter
(c.799C>T)
C>T GA 06 -TaqI Patients: 006.1
025.24
LPM
(25)
link (39)
link (9)
link (3)
link (6)
link (20)
link (14)
CHM Arg 270 ter
(c.808C>T)
C>T GA 06 +BtsCI,+FokI Patients: Japanese
Mexican
link (9) link (22) link (32)
link (20)
link (14)
link (40)
CHM Glu 272 ter
(c.814G>T)
G>T AA 06 link (40)
CHM Gln 273 ter
(c.817C>T)
C>T AG 06 -AlwNI link (33)
CHM c.820-8t>g cataa ta t>g tt ttcag IVS06 link (40)
CHM c.820-1g>c ttca g>c GTT IVS06 link (24)
CHM c.820-2a>g tt ttc a>g g GTT IVS6 Patients: BF link (6)
CHM Arg 293 ter
(c.877C>T)
C>T GA 07
V: 300390.0008
Patients: LN
271.01
LG
link (38)
link (6)
link (20)
link (40)
CHM c.904delT ACA TTT T>_ GT ATG 07
Effect: p.C302Vfs*23
link (20)
CHM Tyr 308 ter
(c.924T>G)
TA T>G 06 link (40)
CHM c.937_940+1delAAAGg TAT AAA Gg>___ __ tatt ttttt 07
Effect: K313Dfs*11
link (12)
CHM c.940+1g>t AAA G g>t tatt IVS07 Patients: BF link (20)
link (6)
CHM Microdeletion del exon 8 - DXS165 8 - 15 Patients: 238.01 (16)
CHM c.941-2A>G tt cat a>g g GA TAT IVS08 link (40)
CHM c.979delC ACT C>_ AA AAA TTA 08
Effect: p.Q327Kfs*3
link (20)
CHM Gln 334 ter
(c.1000C>T)
C>T AA 08 Patients: P20.854 link (39)
CHM Ser 340 ter
(c.1019C>A)
T C>A A 08 Patients: Madrid link (36)
link (46)
link (20)
CHM Ser 345 ter
(c.1044C>G)
T C>G A 08 +NlaIII
Japanese only
link (9)
Polymorphism Arg 367 Gln
(c.1100G>A)
C G>A G 08 -AciI link (35)
CHM c.1133_1134insAAT TTA TA __ _>AA T T GGC 08 -BslI Patients: RSI
Ashkenazi Jew
Effect: Y378 ter
link (21)
CHM Gln 380 ter
(c.1138G>T)
G>T AA 08 link (14)
CHM c.1153dupC CTC CCC C _>C AG 08 -BsrI Patients: JS
Effect: Q385Pfs*33
link (38)
CHM Microdeletion Exon 9 09 Patients: CHM779

Deletion
link (10)
CHM Microdeletion del exon 9 - 13 09 - 13 Patients: LGL1134 link (38)
CHM Microdeletion del exon 9 - pJ15 09 - 15 Patients: C3 link (38)
CHM Microdeletion del exon 09 - 15 09 - 15 link (20)
CHM Ser 403 ter
(c.1208C>G)
T C>G A 09
Japanese only
link (9)
CHM Cys 406 ter
(c.1218C>A)
TG C>A 09 +MaeIII, -BslI Patients: LET
Irish
link (21)
CHM c.1244+1g>a AGA AA g>a taag IVS9 Patients: P21.551 link (39)
link (20)
link (14)
CHM Microdeletion del exon 10 - 15 10 - 15 Patients: NRS link (6)
CHM c.1286_1287delTC ATA ATC TC>__ T GAG 10
Effect: S429 ter
link (3) link (9)
CHM c.1289delA TCT G A>_ G CAT 10
Effect: p.E430Gfs*28
link (20)
CHM c.1350-6t>g tgca t>g tacag IVS10 link (20)
link (28)
CHM c.1310_1313delGTTA GAC A GT TA>__ __ C TTT 05 -HpyCH4III Patients: BG
Effect: S437Tfs*20
link (6)
CHM c.1327delA AAC A>_ TG TGC 10 +HpyCH4IV,-NlaIII,-FatI,-AflIII,-CviAII,-NspI
Effect: p.M443Cfs*15
link (33)
CHM c.1344insC CAA _>C TAC 10 -MwoI,+Bso1286I
Japanese only
Effect: T449Lfs*13
link (9)
CHM Microdeletion Exon 12 12 link (40)
CHM c.1349+2dup ggt TAC AG gt ___>ggt aag gcccc IVS10 Patients: P21.420 link (39)
link (20)
CHM Microdeletion del exon 11 - 14 11 - 14 link (30)
CHM c.1350-1g>a taca g>a G CAG IVS7 Patients: AG link (6)
link (20)
CHM c.1358_1359delCCinsG ATC T CC_ >__G A AGG 11
V: 300390.0002
Patients: 2084
Effect: S45 ter
link (41)
link (40)
CHM c.1363delG AGG G>_ CA GTG 11 -BsaJI Patients: TRE
Effect: A455Qfs*3
link (21)
link (20)
CHM Ser 468 ter
(c.1403C>G)
T C>G A 11 -Hpy188I,-TfiI,-HinfI link (22)
CHM Gln 471 ter
(c.1411C>T)
C>T AG 11 Patients: M link (45)
CHM Gln 471 Leu
(c.1413G>T)
CA G>T G>T gtaaa 11 +BsrI Patients: M link (5)
CHM Microdeletion del exon 12 12 Patients: UH link (30)
CHM Microdeletion del exon 12 - pJ36 12 -15 Patients: 003.05 link (38)
CHM c.1414-1g>a tttta g>a ATT IVS11 -ApoI (19)
CHM c.1414-2a>g tt ttt a>g t ATT IVS11 Patients: FC link (38)
CHM c.1446delA CCA G G>_ A 12
V: 300390.0005
Patients: 001.02
Effect: G483Efs*15
link (41)
CHM c.1448delG CCA G G>_ A ACT 12
Effect: G483Efs*15
link (41)
CHM Glu 491 ter
(c.1471G>T)
G>T AG 12
V: 300390.0004
Patients: 002.01 link (41)
CHM Ser 495 ter
(c.1484C>G)
T C>G A 12
V: 300390.0003
Patients: 017.01 link (41)
CHM Cys 499 ter
(c.1497C>A)
TG C>A 12 +NsiI
V: 300390.0007
Patients: TN link (30)
link (38)
CHM c.1511-2a>g tt aac a>g gAT TTG 12 link (30)
CHM Tyr 504 ter
(c.1512T>A)
aacag A T>A TTG 13 +XmnI,+Tsp509I link (34)
link (20)
link (33)
link (31)
CHM His 507 Arg
(c.1520A>G)
C A>G T 13 Patients: MG link (6)
CHM c.1532_1546insTCTTCTAAACAGCAT TGC A _>TCTTCTAAACAGCAT CA TCT 12
Effect: T511_E653delinsIF
link (40)
CHM c.1578delAinsCC CAG AA A>CC TTG 13 -Tsp509I
Japanese only
Effect: K526Nfs*8
link (11)
CHM c.1584_1587delTGTT TTG TT T GTT>_ ___ CCA 13
V: 300390.0006
Patients: JW, 2086
Effect: V529Hfs*7
link (30)
link (20) link (46)
link (38)
CHM Glu 535 ter
(c.1603G>T)
G>T AG 13 link (20)
CHM c.1609+3ins t gta _>t agaa IVS13 +MseI
V: 300390.0001
Patients: Salla link (29)
CHM c.1609+3a>c gt a>c ag IVS13 link (1)
CHM c.1612_1613delAA AA AA>__ T GAA 14 (44)
CHM c.1624delG G>T AA 14
Effect E542Kfs*13
link (14)
Polymorphism Leu 547 Leu
(c.1641G>T)
CT G>T 14 link (46)
CHM Trp 548 ter
(c.1644G>A)
TG G>A 14 link (40)
CHM c.1646delC TGG G C>_ T CTT 14 -Bsp1286I,-BanII,-CviKI_1
Effect: A549Lfs*6
link (33)
link (31)
CHM Leu 550 Pro
(c.1649T>C)
C T>C T 14 +NlaIV link (33)
link (31)
CHM c.1650_1651delTT TAC TT>__ C AAT 14
Effect: Y551Lfs*15
link (30)
link (38)
CHM Arg 555 ter
(c.1663A>T)
A>T GA 14 link (7)
link (20)
CHM Ser 558 ter
(c.1673C>G)
T C>G A 14 +BsmAI
From Southern France
link (2)
CHM Cys 575 ter
(c.1725C>A)
TG C>A 14 link (40)
CHM c.1759delG G>_ CA 13
Japanese only
Effect: A587Qfs*62
link (9)
CHM Microdeletion del exon 15 15 (44)
CHM c.1771-1g>a gcca g>a GCT IVS14 -MvaI, +AluI Patients: 010.1 (27)
link (39)

References

  1. Beaufrere,L., Girardet,A., Arnaud,B., Claustres,M., and Tuffery,S. Mise au point d'un test diagnostique de la choroideremie: le test de troncation des proteines (PTT). 1998; J.Fr.Ophtalmol. 21: 345-350.
    Goto Top
  2. Beaufrere,L., Tuffery,S., Hamel,C., Arnaud,B., Demaille,J., and Claustres,M. A novel mutation (S558X) causing choroideremia. 1996; Hum.Mutat. 8: 395
    Goto Top
  3. Beaufrere,L., Tuffery,S., Hamel,C., Bareil,C., Arnaud,B., Demaille,J., and Claustres,M. Diagnostic genetique rapide des femmes conductrices apparentees a des sujets atteints de choroideremie. 1997; J.Fr.Ophtalmol. 20: 534-538.
    Goto Top
  4. Beaufrere,L., Tuffery,S., Hamel,C., Bareil,C., Arnaud,B., Demaille,J., and Claustres,M. The protein truncation test (PTT) as a method of detection for choroideremia mutations. 1997; Exp.Eye Res. 65: 849-854.
    Goto Top
  5. Donnelly,P., Menet,H., Fouanon,C., Herbert,O., Moisan,J.P., Le Roux,M.G., and Pascal,O. Missense mutation in the choroideremia gene. 1994; Hum.Mol.Genet. 3: 1017
    Goto Top
  6. Esposito,G., De,F.F., Tinto,N., Testa,F., Vitagliano,L., Tandurella,I.C., Iannone,L., Rossi,S., Rinaldi,E., Simonelli,F., Zagari,A., and Salvatore,F. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. 2011; Hum.Mutat. 32: 1460-1469.
    Goto Top
  7. Forsythe,P., Maguire,A., Fujita,R., Moen,C., Swaroop,A., and Bennett,J. A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia. 1997; Exp.Eye Res. 64: 487-490.
    Goto Top
  8. Francis,P.J., Schultz,D.W., Gregory,A.M., Schain,M.B., Barra,R., Majewski,J., Ott,J., Acott,T., Weleber,R.G., and Klein,M.L. Genetic and phenotypic heterogeneity in pattern dystrophy. 2005; Br.J.Ophthalmol. 89: 1115-1119.
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  9. Fujiki,K., Hotta,Y., Hayakawa,M., Saito,A., Mashima,Y., Mori,M., Yoshii,M., Murakami,A., Matsumoto,M., Hayasaka,S., Tagami,N., Isashiki,Y., Ohba,N., and Kanai,A. REP-1 gene mutations in Japanese patients with choroideremia. 1999; Graefes.Arch.Clin.Exp.Ophthalmol. 237: 735-740.
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  10. Garcia-Hoyos,M., Lorda-Sanchez,I., Gomez-Garre,P., Villaverde,C., Cantalapiedra,D., Bustamante,A., ego-Alvarez,D., Vallespin,E., Gallego-Merlo,J., Trujillo,M.J., Ramos,C., and Ayuso,C. New type of mutations in three spanish families with choroideremia. 2008; Invest Ophthalmol.Vis.Sci. 49: 1315-1321.
    Goto Top
  11. Hotta,Y., Fujiki,K., Hayakawa,M., Kohno,N., Kitagawa,H., Doi,R., and Kanai,A. A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. 1997; Graefes.Arch.Clin.Exp.Ophthalmol. 235: 653-655.
    Goto Top
  12. Iino,Y., Fujimaki,T., Fujiki,K., and Murakami,A. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. 2008; Jpn.J.Ophthalmol. 52: 289-297.
    Goto Top
  13. Itabashi,T., Wada,Y., Sato,H., Kawamura,M., Shiono,T., and Tamai,M. Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 2004; Am J Ophthalmol. 138: 876-877.
    Goto Top
  14. Jacobson,S.G., Cideciyan,A.V., Sumaroka,A., Aleman,T.S., Schwartz,S.B., Windsor,E.A., Roman,A.J., Stone,E.M., and MacDonald,I.M. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 2006; Invest Ophthalmol Vis.Sci. 47: 4113-4120.
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  15. Katz,B.J., Yang,Z., Payne,M., Lin,Y., Zhao,Y., Pearson,E., Duan,S., Kamaya,S., Karan,G., and Zhang,K. Fundus appearance of choroideremia using optical coherence tomograpy. 2006; Adv.Exp.Med.Biol. 572: 57-61.
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  16. Küsters,U., Preising,M.N., Lorenz,B., and Pawlowitzki,I.H. Characterization of a novel partial deletion of the choroideremia gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: S107
    link to PubMed Goto Top
  17. MacDonald,I.M., Chen,M., Mitchell,G., Strasberg,P., Koenekoop,R., and Nesslinger,N. Mutation Analysis Of Canadian Families With Choroideremia. 1996; Invest.Ophthalmol.Vis.Sci. S1146
    link to PubMed Goto Top
  18. MacDonald,I.M., Sereda,C., McTaggart,K., and Mah,D. Choroideremia gene testing. 2004; Expert.Rev.Mol.Diagn. 4: 478-484.
    Goto Top
  19. McTaggart,K.E., Mah,D.Y., Haney,P., Tran,M., Nesslinger,N.J., Greenberg,J., and MacDonald,I.M. Identification of REP-1 gene mutations in families diagnosed with choroideremia. 1998; Am.J.Hum.Genet. 63: A373
    link to PubMed Goto Top
  20. McTaggart,K.E., Tran,M., Mah,D.Y., Lai,S.W., Nesslinger,N.J., and MacDonald,I.M. Mutational analysis of patients with the diagnosis of choroideremia. 2002; Hum.Mutat. 20: 189-196.
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  21. Nesslinger,N., Mitchell,G., Strasberg,P., and MacDonald,I.M. Mutation analysis in Canadian families with choroideremia. 1996; Ophthalm.Genet. 17: 47-52.
    Goto Top
  22. Perez-Cano,H.J., Garnica-Hayashi,R.E., and Zenteno,J.C. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. 2009; Am.J.Med.Genet.A. 149A: 2134-2140.
    Goto Top
  23. Ponjavic,V., Abrahamson,M., Andreasson,S., Van Bokhoven,H., Cremers,F.P., Ehinger,B., and Fex,G. Phenotype variations within a choroideremia family lacking the entire CHM gene. 1995; Ophthalm.Genet. 16: 143-150.
    Goto Top
  24. Potter,M.J., Wong,E., Szabo,S.M., and McTaggart,K.E. Clinical findings in a carrier of a new mutation in the choroideremia gene. 2004; Ophthalmology. 111: 1905-1909.
    Goto Top
  25. Preising,M. and Pawlowitzki,I.H. Molecular screening of exons A1, A2, and A3 in 41 unrelated males with choroideremia. 1993; Invest.Ophthalmol.Vis.Sci. 34: 1463
    link to PubMed Goto Top
  26. Preising,M.N. Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten Erkrankungen. 1999;
    link to PubMed Goto Top
  27. Preising,M.N. and Pawlowitzki,I.H. Evaluation Of A Splice Site Mutation In Intron 14 Of The Choroideremia Gene. 1996; Invest.Ophthalmol.Vis.Sci. 37: S107
    link to PubMed Goto Top
  28. Renner,A.B., Fiebig,B.S., Cropp,E., Weber,B.H., and Kellner,U. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. 2009; Arch Ophthalmol. 127: 907-912.
    Goto Top
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