Milder forms of muscular dystrophy associated with POMGNT2 mutations

OBJECTIVE: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants. METHODS: A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient s...

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Detalles Bibliográficos
Autores principales: Endo, Yukari, Dong, Mingrui, Noguchi, Satoru, Ogawa, Megumu, Hayashi, Yukiko K., Kuru, Satoshi, Sugiyama, Kenji, Nagai, Shigehiro, Ozasa, Shiro, Nonaka, Ikuya, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811383/
https://www.ncbi.nlm.nih.gov/pubmed/27066570
http://dx.doi.org/10.1212/NXG.0000000000000033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811383/
https://www.ncbi.nlm.nih.gov/pubmed/27066570
http://dx.doi.org/10.1212/NXG.0000000000000033

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