A Germline Mutation of the Thyrotropin Receptor Gene Associated with Thyrotoxicosis and Mitral Valve Prolapse in a Chinese Family-Reference-Cited by-同舟云学术

A Germline Mutation of the Thyrotropin Receptor Gene Associated with Thyrotoxicosis and Mitral Valve Prolapse in a Chinese Family

Published:1999-04-01 Issue:4 Volume:84 Page:1459-1462
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Khoo D. H. C.¹,Parma J.²,Rajasoorya C.³,Ho S. C.¹,Vassart G.²

Affiliation:

1. Department of Endocrinology, Singapore General Hospital (D.H.C. S.C.H.), Singapore

2. Institut de Recherche Interdisciplinaire, Universite Libre de Bruxelles (J.P., G.V.), Brussels, Belgium

3. Department of Medicine, Alexandra Hospital (C.R.), Singapore

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/84/4/1459/9216229/jcem1459.pdf

Reference34 articles.

1. Diversity and prevalence of somatic mutations in the TSH receptor and Gsα genes as a cause of toxic thyroid adenomas.;Parma;J Clin Endocrinol Metab,1997

2. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.;Duprez;Nat Genet,1994

3. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.;Kopp;N Engl J Med,1995

4. Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene.;Duprez;J Clin Endocrinol Metab,1997

5. Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan.;Takeshita;J Clin Endocrinol Metab,1995

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