A MissenseGlial Cells Missing Homolog B(GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism-Reference-Cited by-同舟云学术

A MissenseGlial Cells Missing Homolog B(GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

Published:2010-07-01 Issue:7 Volume:95 Page:3512-3516
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Mirczuk Samantha M.¹,Bowl Michael R.¹,Nesbit M. Andrew¹,Cranston Treena²,Fratter Carl²,Allgrove Jeremy³⁴,Brain Caroline⁴,Thakker Rajesh V.¹

Affiliation:

1. Academic Endocrine Unit (S.M.M., M.R.B., M.A.N., R.V.T.), Churchill Hospital, Oxford, OX3 7LJ, United Kingdom;

2. Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, and Oxford Medical Genetics Laboratories (T.C., C.F.), Churchill Hospital, Oxford, OX3 7LJ, United Kingdom;

3. Department of Paediatric Endocrinology (J.A.), The Royal London Hospital, London E1 1BB, United Kingdom;

4. Department of Paediatric Endocrinology (J.A., C.B.), Great Ormond Street Hospital, London WC1A 9JH, United Kingdom

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/95/7/3512/9069364/jcem3512.pdf

Reference20 articles.

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2. The DiGeorge syndrome.;Dodson;Lancet,1969

3. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.;Nesbit;J Biol Chem,2004

4. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.;Pearce;N Engl J Med,1996

5. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.;Arnold;J Clin Invest,1990

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