Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

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, a...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663694/
https://www.ncbi.nlm.nih.gov/pubmed/23557002
http://dx.doi.org/10.1186/1471-2350-14-42

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