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

H, Inoue; N, Kangawa; A, Kinouchi; Y, Sakamoto; C, Kimura; R, Horikawa; Y, Shigematsu; M, Itakura; T, Ogata; K, Fujieda

doi:10.1210/jc.2010-1570

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

Shared by NobleBlocks on Nov 17, 2010 • 12:00 AM UTC

Authors:

Inoue H

Kangawa N

Kinouchi A

Abstract

<h4>Context</h4>Short stature (SS) is a multifactorial developmental condition with a significant genetic component. Recent studies have revealed that rare deleterious mutations in the GH-secretagogue receptor type 1A (GHSR1A) gene could be a cause of familial SS or GH deficiency.<h4>Objective</h4>T...

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