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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Gloyn, A, Noordam, K, Willemsen, M, Ellard, S, Lam, W, Campbell, I, Midgley, P, Shiota, C, Buettger, C, Magnuson, M, Matschinsky, F, Hattersley, A
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: 2003