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Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1963279651

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

About this item

Full title

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

Publisher

Germany: De Gruyter

Journal title

Journal of Pediatric Endocrinology & Metabolism, 2017-11, Vol.30 (12), p.1311-1315

Language

English

Formats

Publication information

Publisher

Germany: De Gruyter

More information

Scope and Contents

Contents

Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KATP channel subunits encoded by the genes ABCC8 and KCNJ11. The effect of simultaneous mutations in both of these genes on the pancreatic β-cell function is not known and patients with CHI carrying both ABCC8 and KCNJ11 mutations have not yet been reported. We questio...

Alternative Titles

Full title

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1963279651

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1963279651

Other Identifiers

ISSN

0334-018X

E-ISSN

2191-0251

DOI

10.1515/jpem-2017-0163

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