Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients

Congenital hyperinsulinism (CHI) has been mostly associated with mutations in seven major genes. We retrospectively reviewed a cohort of 32 patients with CHI. Extensive mutational analysis (ABCC8,KCNJ11,GCK,GLUD1,HADH,HNF4A, and UCP2) was performed on Ion torrent platform, which could analyze hundre...

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Detalles Bibliográficos
Autores principales: Fan, Zi‐chuan, Ni, Jin‐wen, Yang, Lin, Hu, Li‐yuan, Ma, Si‐min, Mei, Mei, Sun, Bi‐jun, Wang, Hui‐jun, Zhou, Wen‐hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694131/
https://www.ncbi.nlm.nih.gov/pubmed/26740944
http://dx.doi.org/10.1002/mgg3.162

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