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Article

Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

Clinical endocrinology - 1 Nov 2011

Lee Seung-Tae, Lee Dong Hwan, Kim Ji-Youn, Kwon Min-Jung, Kim Jong-Won, Hong Yong-Hee, Lee Yong-Wha, Ki Chang-Seok

Abstract excerpt

OBJECTIVE: To investigate thyroid-stimulating hormone receptor (TSHR) and thyroid peroxidase (TPO) mutations in Korean patients with primary congenital hypothyroidism (CH). CONTEXT: Congenital hypothyroidism is a common genetic disorder in which the majority of mutations occur in the TSHR and TPO genes. DESIGN: We examined the frequencies of TSHR and TPO mutations among Korean patients with primary CH....

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Source

Identifiers

PMID: 21707688
DOI: 10.1111/j.1365-2265.2011.04156.x

Genes

TPO
TSHR

Variants

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