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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...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5023937/ https://ncbi.nlm.nih.gov/pubmed/27652280 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.227 |
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