The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes
HNF4A mutations cause increased birth weight, transient neonatal hypoglycemia, and maturity onset diabetes of the young (MODY). The most frequently reported HNF4A mutation is p.R114W (previously p.R127W), but functional studies have shown inconsistent results; there is a lack of cosegregation in som...
| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
American Diabetes Association
2016
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