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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/25950
Title: Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II
Authors: M. P. Wajnrajch
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
Weill Cornell Medical College
Columbia University, College of Physicians and Surgeons
EMD Serono, Inc.
UniversitatsSpital Bern
Vanderbilt University
Mahidol University
Yale University
Albert Einstein College of Medicine of Yeshiva University
The Children's Hospital of Philadelphia
Keywords: Health Professions;Medicine;Neuroscience;Nursing
Issue Date: 1-Jan-2000
Citation: International Journal on Disability and Human Development. Vol.1, No.3 (2000), 125-136
Abstract: 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 biological mechanisms by which such mutations of a single allele result in a functional deficiency state (Le. dominantnegative effects on the normal allele) have not been elucidated. Here we report four unrelated families with IGHD type II caused by a novel missense transition mutation, G6664A, which replaces arginine at position 183 with histidine (ArgI83His, or R183H) in exon 5 of GH1. © 2000, by Walter de Gruyter GmbH & Co. All rights reserved.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85025281014&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/25950
ISSN: 21910367
21911231
Appears in Collections:Scopus 1991-2000

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