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[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].

Authors
  • Yuan, Zhe-feng
  • Luo, Yan-fei
  • Wu, Yi-dong
  • Shen, Zheng
  • Zhao, Zheng-yan
Type
Published Article
Journal
Zhonghua er ke za zhi. Chinese journal of pediatrics
Publication Date
Jul 01, 2007
Volume
45
Issue
7
Pages
508–512
Identifiers
PMID: 17953807
Source
Medline
License
Unknown

Abstract

Three heterozygous missense mutations (Pro52Thr, Gly245Ser, Val689Gly) of TSHR gene were firstly detected in Chinese children with CH. There was a polymorphism in exon 10 at nucleotide 2181 (GAC-->GAG) and in exon 7 at nucleotide 561 (AAT-->AAC) in TSHR gene. The inactivating mutation of TSHR gene is an infrequent pathogeny for CH.

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