A novel mutation KCNJ11 R136C caused KCNJ11-MODY

A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious...

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Detalles Bibliográficos
Autores principales: Chen, Yaning, Hu, Xiaodong, Cui, Jia, Zhao, Mingwei, Yao, Hebin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406974/
https://www.ncbi.nlm.nih.gov/pubmed/34465386
http://dx.doi.org/10.1186/s13098-021-00708-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406974/
https://www.ncbi.nlm.nih.gov/pubmed/34465386
http://dx.doi.org/10.1186/s13098-021-00708-6

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