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 |
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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Description | Collection_Type_id |
| GM17890 | Male | 4 YR | HERMANSKY-PUDLAK SYNDROME 2; HPS2 | GM |
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