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Mutation Database
Mutations of the HPS3 Gene

Recent update from: 17.08.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

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

HPS3 3904bp del del 3904 bp gDNA
Puerto Rican from Ciales
Flanked by AluSg and AluY5 repeat

606118-0001 (1)


  1. Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O., Fitzpatrick,D.L., Touchman,J.W., Compton,J.G., Bale,S.J., Swank,R.T., Gahl,W.A., and Toro,J.R. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 2001; Nat.Genet. 28: 376-380.
    Link to PubMed
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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