A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing

BACKGROUND: Glycosylphosphatidylinositol (GPI) anchoring is a special type of protein posttranslational modification, by which proteins with diverse function are attached to cell membrane through a covalent linkage between the protein and the glycolipid. Phosphatidylinositol glycan anchor biosynthes...

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Detalles Bibliográficos
Autores principales: Yang, Junli, Wang, Qiong, Zhuo, Qingcui, Tian, Huiling, Li, Wen, Luo, Fang, Zhang, Jinghui, Bi, Dan, Peng, Jing, Zhou, Dong, Xin, Huawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160699/
https://www.ncbi.nlm.nih.gov/pubmed/29974678
http://dx.doi.org/10.1002/mgg3.428

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160699/
https://www.ncbi.nlm.nih.gov/pubmed/29974678
http://dx.doi.org/10.1002/mgg3.428

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