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

Abstract:

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 regulatory subunit of the K(ATP) channel have recently been reported. We studied a cohort of 59 patients with permanent diabetes who received a diagnosis before 6 mo of age and who did not have a KC...

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Publication status:
Published

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Publisher copy:
10.1086/519174

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Journal:
American journal of human genetics
Volume:
81
Issue:
2
Pages:
375-382
Publication date:
2007-08-01
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Source identifiers:
114702

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