An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor-Reference-Cited by-同舟云学术

An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor

Published:1999-04 Issue:4 Volume:50 Page:537-543
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clinical Endocrinology

Author:

Chikatsu Noriko,Fukumoto Seiji,Suzawa Miyuki,Tanaka Yuji,Takeuchi Yasuhiro,Takeda Shu,Tamura Yasuhiro,Matsumoto Toshio,Fujita Toshiro

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.1999.00729.x/fullpdf

Reference26 articles.

1. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca (2+) -sensing receptor gene;Aida;Journal of Clinical Endocrinology and Metabolism,1995

2. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor;Bai;Journal of Biological Chemistry,1996

3. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism;Bai;Journal of Clinical Investigation,1997

4. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia;Bai;Journal of Clinical Investigation,1997

5. Mutations in the Ca (2+) -sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism;Baron;Human Molecular Genetics,1996

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