Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the Adenosine Triphosphate-Sensitive Potassium Channel Genes-Reference-Cited by-同舟云学术

Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the Adenosine Triphosphate-Sensitive Potassium Channel Genes

Published:2005-02-01 Issue:2 Volume:90 Page:789-794
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Henwood Maria J.¹,Kelly Andrea¹,MacMullen Courtney¹,Bhatia Pooja²,Ganguly Arupa³,Thornton Paul S.⁴,Stanley Charles A.¹

Affiliation:

1. Division of Endocrinology/Diabetes (M.J.H., A.K., C.M., C.A.S.), Philadelphia, Pennsylvania, 19104

2. General Clinical Research Center (P.B.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104

3. Department of Genetics (A.G.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104

4. Division of Endocrinology (P.S.T.), Cook Children’s Medical Center, Fort Worth, Texas 76104

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/90/2/789/9111102/jcem0789.pdf

Reference26 articles.

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2. Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.;Nestorowicz;Hum Mol Genet,1996

3. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.;Nestorowicz;Diabetes,1997

4. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.;Thomas;Science,1995

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

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