Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population-Reference-Cited by-同舟云学术

Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population

Published:2007-11-01 Issue:11 Volume:92 Page:4373-4379
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Nissen Peter H.¹,Christensen Signe E.²,Heickendorff Lene¹,Brixen Kim³,Mosekilde Leif²

Affiliation:

1. Departments of Clinical Biochemistry (P.H.N., L.H.), Aarhus University Hospital, Aarhus Sygehus, DK-8000 Aarhus C, Denmark

2. Departments of Endocrinology and Metabolism (S.E.C., L.M.), Aarhus University Hospital, Aarhus Sygehus, DK-8000 Aarhus C, Denmark

3. Department of Endocrinology (K.B.), Odense University Hospital, DK-5000 Odense, Denmark

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/92/11/4373/9054055/jcem4373.pdf

Reference32 articles.

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2. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.;Pollak;Cell,1993

3. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.;Pollak;Nat Genet,1994

4. Extracellular calcium sensing and extracellular calcium signaling.;Brown;Physiol Rev,2001

5. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs;Garrett;J Biol Chem,1995

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