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Mutation Database
 Mutations of the Adaptin b3a Gene (ADTB3A)

Recent update from: 17.08.2002

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




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


HPS2 63bp del





603401-0001 (1)
HPS2 Leu 580 Arg CTT - CGT




603401-0002 (1)

References

  1. Dell'Angelica,E.C., Shotelersuk,V., Aguilar,R.C., Gahl,W.A., and Bonifacino,J.S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 1999; Mol.Cell. 3: 11-21.
    Link to PubMed
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Dr. rer. medic. Markus Preising, Dipl.Biol.
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Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz