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|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. D. Cogan
J. A. Phillips
P. S. Dannies
Michael P. Wajnrajch
Weill Cornell Medical College
Columbia University, College of Physicians and Surgeons
EMD Serono, Inc.
Albert Einstein College of Medicine of Yeshiva University
The Children's Hospital of Philadelphia
|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.|
|Appears in Collections:||Scopus 1991-2000|
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