A novel mutation KCNJ11 R136C caused KCNJ11-MODY
نویسندگان
چکیده
Abstract 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 136th amino acid is highly conservative mutation deleterious. can result change channel port structure K ATP channel. So she was as -MODY.
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2021
ISSN: ['1758-5996']
DOI: https://doi.org/10.1186/s13098-021-00708-6