Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel-Reference-Cited by-同舟云学术

Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel

Published:2004-08-01 Issue:8 Volume:89 Page:3932-3935
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Gloyn Anna L.¹,Cummings Elizabeth A.²,Edghill Emma L.¹,Harries Lorna W.¹,Scott Rachel²,Costa Teresa³,Temple I. Karen⁴,Hattersley Andrew T.¹,Ellard Sian¹

Affiliation:

1. Diabetes and Vascular Medicine (A.L.G., E.L.E., L.W.H., A.T.H., S.E.), Peninsula Medical School, Exeter EX2 5AX, United Kingdom

2. Department of Pediatrics (E.A.C., R.S.), Dalhousie University and IWK Health Centre, Halifax B3K 6R8, Canada

3. Department of Pediatrics (T.C.), Ste. Justine Hospital, Universite de Montreal, Montreal H3T 1C5, Canada

4. Wessex Clinical Genetics Service and Division of Human Genetics (I.K.T.), Southampton University and Hospitals National Health Service Trust, Southampton SO16 5YA, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/89/8/3932/9145901/jcem3932.pdf

Reference23 articles.

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2. Association and stoichiometry of K-ATP channel subunits.;Clement;Neuron,1997

3. Mutations in the sulphonylurea receptor and familial persistent hyperinsulinemic hypoglycemia of infancy.;Thomas;Science,1995

4. Mutation of the pancreatic islet inward rectifier, Kir6.2, also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.;Thomas;Hum Mol Genet,1996

5. Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

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