Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II

Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II

Autosomal dominant familial isolated growth hormone (GH) deficiency (IGHD type II) is a rare cause of human GH deficiency. Virtually all reported instances have been due to mutations of the GH gene (GH1) donor splice site at the junction of exon 2 and intron 3 (intervening sequence 3, or IVS3). The...

Full description

Saved in:
Bibliographic Details
Main Authors: M. P. Wajnrajch, R. L. Leibel, J. M. Gertner, P. E. Mullis, J. Deladoey, J. D. Cogan, J. A. Phillips, S. Lekhakula, S. Kim, P. S. Dannies, P. Saenger, T. Moshang, Michael P. Wajnrajch
Other Authors: Weill Cornell Medical College
Format: Article
Published: 2018
Subjects:
Health Professions
Medicine
Neuroscience
Nursing
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/25950
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Mahidol University

Internet

https://repository.li.mahidol.ac.th/handle/123456789/25950

Similar Items