Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 r...

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Những tác giả chính: Ellard, S, Flanagan, SE, Girard, C, Patch, A, Harries, L, Parrish, A, Edghill, E, Mackay, D, Proks, P, Shimomura, K, Haberland, H, Carson, D, Shield, J, Hattersley, A, Ashcroft, F
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2007