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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
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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