A Novel Mutation KCNJ11 R136C Caused KCNJ11-MODY
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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 the 136 th amino acid is highly conservative and deleterious. And KCNJ11 R136C can result in the change of channel port structure of K ATP channel. So she was diagnosed as KCNJ11 -MODY.
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00
- unpaywall
- last seen: 2026-05-30T02:00:01.510937+00:00
License: CC-BY-4.0