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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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Bibliografiske detaljer
Main Authors: Nazarian, Ramin, Huizing, Marjan, Helip-Wooley, Amanda, Starcevic, Marta, Gahl, William A., Dell’Angelica, Esteban C.
Format: Artigo
Sprog:Inglês
Udgivet: 2007
Fag:
Online adgang: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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