Heterozygous Nonsense Mutation in Exon 3 of the Growth Hormone Receptor (GHR) in Severe GH Insensitivity (Laron Syndrome) and the Issue of the Origin and Function of the GHRd3 Isoform-Reference-Cited by-同舟云学术

Heterozygous Nonsense Mutation in Exon 3 of the Growth Hormone Receptor (GHR) in Severe GH Insensitivity (Laron Syndrome) and the Issue of the Origin and Function of the GHRd3 Isoform

Published:2003-04-01 Issue:4 Volume:88 Page:1705-1710
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Pantel Jacques¹,Grulich-Henn Jürgen²,Bettendorf Markus²,Strasburger Christian J.³,Heinrich Udo²,Amselem Serge¹

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale, Unité-468 (J.P., S.A.), Hôpital Henri Mondor, 94010 Créteil, France;

2. Division of Pediatric Endocrinology (J.G.-H., M.B., U.H.), University Children’s Hospital, D-69120 Heidelberg, Germany;

3. Division of Endocrinology, Department of Internal Medicine (C.J.S.), 10117 Berlin, Germany

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/88/4/1705/9150090/jcem1705.pdf

Reference34 articles.

1. Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.;Savage;Horm Res,2001

2. Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism?;Laron;Isr J Med Sci,1966

3. Laron dwarfism and mutations of the growth hormone-receptor gene.;Amselem;N Engl J Med,1989

4. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.;Godowski;Proc Natl Acad Sci USA,1989

5. Molecular basis of inherited growth hormone resistance in childhood.;Amselem;Baillieres Clin Endocrinol Metab,1996

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