Publication

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA, Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res51(2):150-8 2002
PubMed ID: 11809908

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingDescription
GM17890Male4 YRHERMANSKY-PUDLAK SYNDROME 2; HPS2