Hermansky-Pudlak Syndrome: Mutation Update

Hermansky–Pudlak syndrome (HPS) is a group of ten autosomal recessive multisystem disorders, each defined by deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor Protein (AP)-3 and Biogenesis of Lysosome-related Organelles Co...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Huizing, Marjan, Malicdan, May Christine V., Wang, Jennifer A., Pri-Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O’Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8175076/
https://ncbi.nlm.nih.gov/pubmed/31898847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23968
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