Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability

Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic derma...

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Autores principales: Kang, Nayoung, Jun, Ah Hyun, Bhutia, Yangzom Doma, Kannan, Natarajan, Unadkat, Jashvant D., Govindarajan, Rajgopal
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2010
Materias:
Molecular Bases of Disease
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2934698/
https://ncbi.nlm.nih.gov/pubmed/20595384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.109199
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