Article
Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.
The Journal of clinical endocrinology and metabolism - 1 Mar 2008
Fang Peng, Girgis Rose, Little Brian M, Pratt Katherine L, Guevara-Aguirre Jaime, Hwa Vivian, Rosenfeld Ron G
Abstract excerpt
CONTEXT: Among more than 250 cases of GH insensitivity syndrome (GHIS) reported to date, the largest cohort was identified in southern Ecuador. In the Ecuadorian GHIS cohort, a sense mutation (GAA>GAG) at codon E180 of GH receptor [GHR (E180sp)] results in deletion of codons 181-188. No functional studies of this mutation have been performed, nor have different mutations at codon 180 been reported. OBJECTIVE: We...
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