Article
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
BMC medical genetics - 4 Apr 2013
Jones Matthew L, Murden Sherina L, Brooks Claire, Maloney Viv, Manning Richard A, Gilmour Kimberly C, Bharadwaj Vandana, de la Fuente Josu, Chakravorty Subarna, Mumford Andrew D
Abstract excerpt
BACKGROUND: Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation, absent platelet dense granule secretion, neutropenia and reduced cytotoxic T lymphocyte (CTL) and natural killer (NK)...
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