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Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia

Glucokinase-maturity-onset diabetes of the young (GCK-MODY or MODY 2), caused by a heterozygous inactivating variant in the Glucokinase (GCK) gene, is a common form of MODY. Here, we present a case of GCK-MODY in a young Chinese boy, his sister and his father with a novel pathogenic variant in exon...

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Detalles Bibliográficos
Autores principales: Poon, Kok-Siong, Tan, Karen Mei-Ling, Koay, Evelyn Siew-Chuan, Sng, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105490/
https://www.ncbi.nlm.nih.gov/pubmed/32257292
http://dx.doi.org/10.1038/s41439-020-0096-0