Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation-Reference-Cited by-同舟云学术

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Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation

Published:1994-11 Issue:3 Volume:8 Page:303-307
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Pollak Martin R.,Brown Edward M.,Estep Herschel L.,McLaine Peter N.,Kifor Olga,Park Ji,Hebert Steven C.,Seidman Christine E.,Seidman J. G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1194-303.pdf

Reference21 articles.

1. Brown, E.M., Extracelluar Ca2+ sensing, regulation of parathyroid cell function, and role of Ca2+ and other tons as extracellular (first) messengers. Physiol. Rev. 71, 371–411 (1991).

2. Brown, E.M. et al. Cloning, expression, and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid. Nature 366, 575–580 (1993).

3. Chou, Y.-H.W. et al. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nature Genet. 1, 295–299 (1992).

4. Pollak, M.R. et al. Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75, 1297–1303 (1993).

5. Pollak, M.R. et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: The effects of mutant gene dosage on phenotype. J. clin. Invest. 93, 1108–1112 (1994).

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