Scientific Newsletter Logo Retina International's

Scientific Newsletter


Mutation Database
Mutations of the Human light ear Gene (le, HPS4)

Recent update from: 25.08.2002


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
HPS4 Phe 19delT T-_


Heterozygous


(1)
HPS4 Ala 316ins24bp _-GCT TGT CCA GAT GGC AGG AAG GAG


Homozygous


(1)
HPS4 Gln 163 ter CAG-TAG


Homozygous


(1)
HPS4 Gln 181 ter CAG-TAG


Homozygous


(1)
Sequence




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


References

  1. Suzuki,T., Li,W., Zhang,Q., Karim,A., Novak,E.K., Sviderskaya,E.V., Hill,S.P., Bennett,D.C., Levin,A.V., Nieuwenhuis,H.K., Fong,C.T., Castellan,C., Miterski,B., Swank,R.T., and Spritz,R.A. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 2002; Nat.Genet. .:
    Link to PubMed
    Goto Top


Return to Retina International's
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor
Return to
Database Page
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz