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Article

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.

Clinical endocrinology - 1 Feb 2011

Inoue Hiroshi, Kangawa Natsumi, Kinouchi Atsuko, Sakamoto Yukiko, Kimura Chizuko, Horikawa Reiko, Shigematsu Yosuke, Itakura Mitsuo, Ogata Tsutomu, Fujieda Kenji

Abstract excerpt

CONTEXT: Growth hormone-releasing hormone receptor (GHRHR) gene mutations have been identified in patients of different ethnic origins with isolated GH deficiency (IGHD) type IB. However, the prevalence of these mutations in the Japanese population has yet to be fully determined. OBJECTIVES: This study aimed to evaluate the contributions of GHRHR mutations to the molecular mechanism underlying short stature in...

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Identifiers

PMID: 21044116
DOI: 10.1111/j.1365-2265.2010.03911.x

Genes

GHRHR

Variants

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