Hyperparathyroidism-Jaw Tumor Syndrome in Roma Families from Portugal Is Due to a Founder Mutation of the HRPT2 Gene-Reference-Cited by-同舟云学术

Hyperparathyroidism-Jaw Tumor Syndrome in Roma Families from Portugal Is Due to a Founder Mutation of the HRPT2 Gene

Published:2004-04-01 Issue:4 Volume:89 Page:1747-1752
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Cavaco Branca M.¹²,Guerra Laura³,Bradley Karin J.²,Carvalho Davide⁴,Harding Brian²,Oliveira Amélia⁵,Santos Maria-Amparo¹,Sobrinho Luís G.¹,Thakker Rajesh V.²,Leite Valeriano¹

Affiliation:

1. Centro de Investigação de Patobiologia Molecular, Instituto Português de Oncologia de Francisco Gentil, Centro Regional de Oncologia de Lisboa, Sociedade Anónima (B.M.C., M.-A.S., L.G.S., V.L.), 1099-023 Lisboa, Portugal

2. Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, Botnar Research Center, Nuffield Orthopedic Center, University of Oxford (B.M.C., K.J.B., B.H., R.V.T.), Oxford, United Kingdom OX3 7LD

3. Serviço de Endocrinologia, Hospital Curry Cabral (L.G.), 1069-166 Lisboa, Portugal

4. Serviço de Endocrinologia, Hospital de S. João (D.C.), 4200 Porto, Portugal

5. Centro de Saúde de Elvas (A.O.), 7350 Elvas, Portugal

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/89/4/1747/10743579/jcem1747.pdf

Reference30 articles.

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2. Familial hyperparathyroid syndromes;Heath;In: Favus MJ, eds. Primer on metabolic bone disorders and disorders of mineral metabolism, 3rd Ed. Philadelphia: Lippincott-Raven;,1996

3. Multiple endocrine neoplasia;Thakker;In: Sheppard MC, eds. Molecular biology and endocrinology. London: Bailliere Tindall;,1988

4. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2.;Mulligan;J Clin Endocrinol Metab,1995

5. Clinical studies of multiple endocrine neoplasia type 1 (MEN1).;Trump;Q J Med,1996

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