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Scientific Newsletter


Mutation Database
Mutations of the Chediak Higashi Syndrome

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
CHS Ala 40 insG GCA-GGCA


Homozygous

(1)
CHS Arg 1103 ter CGA-TGA


Homozygous

(1)
CHS Glu 489 delG GAGCAA-GA_CAA


Homozygous

(1)

References

1. Nagle, D.L., Karim, M.A., Woolf, E.A., Holmgren, L., Bork, P., Musini, D.J., McGrail, S.H., Dussault, B.J., Perou, C.M., Boissy, R.E., Duyk, G.M., Spritz, R.A., and Moore, K.J. Identification and Mutation Analysis of the Complete Gene for Chediak-Higashi Syndrome. 1996; Nat.Genet. 14: 307 - 311.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz