Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Nazarian, Ramin, Huizing, Marjan, Helip-Wooley, Amanda, Starcevic, Marta, Gahl, William A., Dell’Angelica, Esteban C.
Formato: Artigo
Idioma:Inglês
Publicado: 2007
Assuntos:
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!