Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient

Article

Abstract: Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with in

Palabras claves:

carrier detection test, growth hormone insensiiivity, growth hormone receptor defects, Laron syndrome, mechanisms of mutation, MnlI restriction enzyme

Autores:

Berg M., Francke U., Jaime Guevara-Aguirre, Laron Z., Milner R., Peoples R., Pérez‐Jurado L., Rosenbloom A.L.

Fuentes:

scopus