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....

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Veröffentlicht in:J Endocr Soc
Hauptverfasser: Miller, Bradley Scott, Rihs, Silvia, Parween, Shaheena, Ternand, Christine, Gregory, Louise Cheryl, Dattani, Mehul Tulsidas, Pandey, Amit V
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2020
Schlagworte:
Pediatric Endocrinology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209589/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2187
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