Načítá se...

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Nazarian, Ramin, Huizing, Marjan, Helip-Wooley, Amanda, Starcevic, Marta, Gahl, William A., Dell’Angelica, Esteban C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
Témata:
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!