- Abstract:
-
CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: Our objective was to determine the parental origin of de novo KCNJ11 mutations and investigate the possibility of mosaicism in transmitting parents. DESIGN: We identified 68 index cases with a KCNJ1...
Expand abstract - Publication status:
- Published
- Journal:
- The Journal of clinical endocrinology and metabolism
- Volume:
- 92
- Issue:
- 5
- Pages:
- 1773-1777
- Publication date:
- 2007-05-05
- DOI:
- EISSN:
-
1945-7197
- ISSN:
-
0021-972X
- URN:
-
uuid:42eac86e-2806-450c-a9fe-ccbf649ebe5e
- Source identifiers:
-
2830
- Local pid:
- pubs:2830
- Language:
- English
- Keywords:
- Copyright date:
- 2007
Journal article
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
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