A novel mutation KCNJ11 R136C caused KCNJ11-MODY
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 136th amino acid is highly conservative and the mutation is de...
| Asıl Yazarlar: | , , , , |
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| Materyal Türü: | Makale |
| Dil: | English |
| Baskı/Yayın Bilgisi: |
BMC
2021-08-01
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| Seri Bilgileri: | Diabetology & Metabolic Syndrome |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13098-021-00708-6 |