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Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients
BACKGROUND: Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim of this...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5634867/ https://ncbi.nlm.nih.gov/pubmed/29017447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0472-x |
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