Stature in Ecuadorians Heterozygous for Growth Hormone Receptor Gene E180 Splice Mutation Does Not Differ From That of Homozygous Normal Relatives1-Reference-Cited by-同舟云学术

Stature in Ecuadorians Heterozygous for Growth Hormone Receptor Gene E180 Splice Mutation Does Not Differ From That of Homozygous Normal Relatives1

Published:1998-07-01 Issue:7 Volume:83 Page:2373-2375
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Rosenbloom Arlan L.¹,Guevara-Aguirre Jaime²,Berg Mary Anne³,Francke Uta³

Affiliation:

1. Department of Pediatrics, University of Florida College of Medicine, Children’s Medical Services Center (A.R.), 1701 SW 16th Avenue, Gainesville, Florida 32608

2. Institute of Endocrinology Metabolism and Reproduction (J.G-A.), Quito, Ecuador

3. Department of Genetics and Howard Hughes Medical Institute, Stanford University Medical Center (M.S.B., U.F.), Stanford, California 94305-5323

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/83/7/2373/13122725/jcem2373.pdf

Reference18 articles.

1. Growth hormone insensitivity.;Rosenbloom;Ped Clin North Am,1997

2. Mutations of the growth hormone receptor in children with idiopathic short stature.;Goddard;N Engl J Med,1995

3. A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full length receptor and generates large amounts of binding protein.;Ross;Mol Endocrinol,1997

4. A dominant-negative mutation of the growth hormone receptor causes familial short stature.;Ayling;Nature Genet,1997

5. Genetic aspects of pituitary dwarfism due to absence or biological inactivity of growth hormone.;Pertzelan;Isr J Med Sci,1968