A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platel...

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Autors principals: Morgan, Neil V., Pasha, Shanaz, Johnson, Colin A., Ainsworth, John R., Eady, Robin A. J., Dawood, Ban, McKeown, Carole, Trembath, Richard C., Wilde, Jonathan, Watson, Steve P., Maher, Eamonn R.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380215/
https://ncbi.nlm.nih.gov/pubmed/16385460
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