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Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
BACKGROUND: EAST syndrome is an autosomal recessive disorder caused by loss‐of‐function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a res...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023937/ https://www.ncbi.nlm.nih.gov/pubmed/27652280 http://dx.doi.org/10.1002/mgg3.227 |