Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the K(ATP) channel

Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor...

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Publicado en:J Gen Physiol
Autores principales: Cooper, Paige E., Sala-Rabanal, Monica, Lee, Sun Joo, Nichols, Colin G.
Formato: Artigo
Lenguaje:Inglês
Publicado: The Rockefeller University Press 2015
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Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4664827/
https://ncbi.nlm.nih.gov/pubmed/26621776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.201511495
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