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Article

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Clinica chimica acta; international journal of clinical chemistry - 1 May 2017

Fan Xin, Fu Chunyun, Shen Yiping, Li Chuan, Luo Shiyu, Li Qifei, Luo Jingsi, Su Jiasun, Zhang Shujie, Hu Xuyun, Chen Rongyu, Gu Xuefan, Chen Shaoke

Abstract excerpt

BACKGROUND: Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. METHODS: Peripheral venous blood samples were collected from the patients. Genomic DNA was extracted from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28215547
DOI: 10.1016/j.cca.2017.02.009

Genes

DUOX2
TPO
PAX8
TSHR
FOXE1
GLIS3

Provenance

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