Article
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
Pediatric research - 1 Feb 2002
Huizing Marjan, Scher Charles D, Strovel Erin, Fitzpatrick Diana L, Hartnell Lisa M, Anikster Yair, Gahl William A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease consisting of oculocutaneous albinism and a storage pool deficiency resulting from absent platelet dense bodies. The disorder is genetically heterogeneous. The majority of patients, including members of a large genetic isolate in northwest Puerto Rico, have mutations in HPS1. Another gene, ADTB3A, was shown to cause HPS-2 in two brothers having...
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