Article
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Hormone research in paediatrics - 1 Jan 2012
Marui Suemi, Trarbach Ericka B, Boguszewski Margaret C S, França Marcela M, Jorge Alexander A L, Inoue Hiroshi, Nishi Mirian Y, de Lacerda Filho Luiz, Aguiar-Oliveira Manuel H, Mendonca Berenice B, Arnhold Ivo J P
Abstract excerpt
BACKGROUND: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). OBJECTIVE: To search for GHRHR mutations in patients with familial or sporadic IGHD and to investigate founder effects in recurring mutations. METHODS: The coding region of GHRHR was entirely amplified and sequenced from DNA of 18 patients with IGHD (16...
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