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Article(3)
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American Journal of Human Genetics(1)
Human Mutation(1)
Journal of Clinical Endocrinology and Metabolism(1)
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scopus(3)
Diverse growth hormone receptor gene mutations in Laron syndrome
ArticleAbstract: To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-Palabras claves:Autores:Argente J., Berg M.A., Chernausek S., Francke U., Gracia R., Hopp M., Jaime Guevara-Aguirre, Pérez‐Jurado L., Rosenbloom A.L., Toledo S.Fuentes:scopusMutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
ArticleAbstract: Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. WePalabras claves:Growth hormone receptor, Laron dwarfism, mutation, RNA splicingAutores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G.Fuentes:scopusStature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives
ArticleAbstract: Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause ofPalabras claves:Autores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L.Fuentes:scopus