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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Detalles Bibliográficos
Autores principales: Abdelhadi, Ola, Iancu, Daniela, Tekman, Mehmet, Stanescu, Horia, Bockenhauer, Detlef, Kleta, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
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

Internet

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

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