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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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Main Authors: | , , , , , , , , , |
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格式: | Artigo |
語言: | Inglês |
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BioMed Central
2013
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3663694/ https://ncbi.nlm.nih.gov/pubmed/23557002 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-42 |
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