Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Glucokinase (GCK) is a key regulatory enzyme in the pancreatic beta-cell and catalyzes the rate-limiting step for beta-cell glucose metabolism. We report two novel GCK mutations (T65I and W99R) that have arisen de novo in two families with familial hypoglycemia. Insulin levels, although inappropriat...
Հիմնական հեղինակներ: | , , , , , , , , , , , |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
2003
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