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Article(4)
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Acta Pædiatrica(1)
American Journal of Human Genetics(1)
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Journal of Clinical Endocrinology and Metabolism(1)
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scopus(4)
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:scopusReceptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient
ArticleAbstract: Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inPalabras claves:carrier detection test, growth hormone insensiiivity, growth hormone receptor defects, Laron syndrome, mechanisms of mutation, MnlI restriction enzymeAutores:Berg M., Francke U., Jaime Guevara-Aguirre, Laron Z., Milner R., Peoples R., Pérez‐Jurado L., Rosenbloom A.L.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