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An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) comprises a constellation of human autosomal recessive disorders characterized by albinism and platelet storage pool deficiency. At least eight types of HPS have been defined based on the identity of the mutated gene. These genes encode components of four ubiquitously...

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Detalhes bibliográficos
Main Authors: Nazarian, Ramin, Huizing, Marjan, Helip-Wooley, Amanda, Starcevic, Marta, Gahl, William A., Dell’Angelica, Esteban C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2242292/
https://ncbi.nlm.nih.gov/pubmed/17933573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2007.09.001
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