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- Title
E180splice Mutation in the Growth Hormone Receptor Gene in a Chilean Family with Growth Hormone Insensitivity: A Probable Common Mediterranean Ancestor.
- Authors
Espinosa, Claudia; Sjoberg, Marcela; Salazar, Teresa; Rodriguez, Adrian; Cassorla, Fernando G.; Mericq, M. Veronica; Carvallo, Pilar
- Abstract
The article presents information on a study which examined E180splice mutation in the growth hormone (GH) receptor gene in a Chilean family with growth hormone insensitivity. It has been identified that mutations in the GH receptor gene is the cause of GH insensitivity syndrome. It investigated the clinical and biochemical characteristics and the coding sequence and intron-exon boundaries of the GH receptor gene in a consanguineous family with severe short stature. It reveals the result of molecular analysis of the GH receptor gene.
- Subjects
GENETIC mutation; SOMATOTROPIN; HUMAN growth hormone; STATURE; BODY size; SHORT people
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2008, Vol 21, Issue 12, p1119
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/JPEM.2008.21.12.1119