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A novel splice-site mutation of the HNF1B gene in a family with maturity onset diabetes of the young type 5 (MODY5)
SUMMARY: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes mellitus characterised by early onset and dominant inheritance. Delayed diagnosis or misdiagnosis as type 1 or type 2 diabetes mellitus is common. Definitive genetic diagnosis is essential for appropriate treatment...
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| 出版年: | Endocrinol Diabetes Metab Case Rep |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Bioscientifica Ltd
2020
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7576636/ https://ncbi.nlm.nih.gov/pubmed/33434175 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0092 |
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