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A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13
Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene. CASE PRESENTATION: A pair of father and son was exa...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524910/ https://www.ncbi.nlm.nih.gov/pubmed/36181023 http://dx.doi.org/10.1097/MD.0000000000030668 |