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Journal article

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

Abstract:

CONTEXT: Activating mutations in genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the pancreatic ATP-sensitive K(+) channel are a common cause of permanent neonatal diabetes (PNDM). All Kir6.2 mutations identified to date are missense mutations. We describe here a novel in-frame deletion (residues 28-32) in Kir6.2 in a heterozygous patient with PNDM without neurological problems that are detectable by standard evaluation. OBJECTIVE: The aim of the study was to identify the muta...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2009-0159

Authors


Shimomura, K More by this author
Flanagan, SE More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
94
Issue:
7
Pages:
2551-2557
Publication date:
2009-07-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:cfdfa294-273e-4ec6-8951-459384d9f95d
Source identifiers:
113486
Local pid:
pubs:113486

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