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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 no: | J Gen Physiol |
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Main Authors: | , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
The Rockefeller University Press
2015
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Assuntos: | |
Acesso em linha: | 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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