A carregar...

MON-LB014 Autosomal Dominant Growth Hormone Deficiency Due to a Novel c.178g>A Mutation in the GH1 Gene Is Caused by Alternative Splicing to Produce a Small GH Isoform

Introduction: Growth hormone (GH) plays a vital role in human physiology. Mutations in GH1 cause isolated growth hormone deficiency (GHD). The most frequent cause of familial growth hormone deficiency is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations....

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Miller, Bradley Scott, Rihs, Silvia, Parween, Shaheena, Ternand, Christine, Gregory, Louise Cheryl, Dattani, Mehul Tulsidas, Pandey, Amit V
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209589/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2187
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!