Compound Heterozygous Mutations in theGNASGene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State-Reference-Cited by-同舟云学术

Compound Heterozygous Mutations in theGNASGene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State

Published:2008-12-01 Issue:12 Volume:93 Page:4844-4849
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Freson Kathleen¹,Izzi Benedetta¹,Jaeken Jaak²,Van Helvoirt Monique²,Thys Chantal¹,Wittevrongel Christine¹,de Zegher Francis²,Van Geet Chris¹²

Affiliation:

1. Center of Molecular and Vascular Biology (K.F., B.I., C.T., C.W., C.V.G.), University Hospital Gasthuisberg, University of Leuven, B-3000 Leuven, Belgium

2. Department of Pediatrics (J.J., M.V.H., F.d.Z., C.V.G.), University Hospital Gasthuisberg, University of Leuven, B-3000 Leuven, Belgium

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/93/12/4844/9055466/jcem4844.pdf

Reference19 articles.

1. Isolation and characterization of the human Gsα gene.;Kozasa;Proc Natl Acad Sci USA,1988

2. Human cDNA clones for four species of Gsα signal transduction protein.;Bray;Proc Natl Acad Sci USA,1986

3. Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency;Weinstein;In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press;,1998

4. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism.;Levine;Biochem Biophys Res Commun,1980

5. Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I.;Levine;J Clin Invest,1983

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