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Article

[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].

Zhonghua yi xue za zhi - 9 Apr 2013

Xu Zi-di, Yu He-fen, Sang Yan-mei, Zhang Yao-nan, Yan Jie, Wu Yu-jun, Zhu Cheng, Ni Gui-chen

Abstract excerpt

OBJECTIVE: To explore the ABCC8, KCNJ11, and GLUD1 gene mutations of the 11 patients diagnosed as congenital hyperinsulinism (CHI). METHODS: A total of 11 CHI children hospitalized in Beijing Children's Hospital from November 2008 to February 2012 and their parents were chosen as the study subjects. Direct sequencing of PCR-DNA was used to analyze the 39 exons of ABCC8 gene, non-translational region and exon of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23902843

Genes

ABCC8
GLUD1
KCNJ11

Variants

Provenance

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