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Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia

We report five novel mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation ((228)Arg→Gln, (139)Thr→Met, (144)Gly→Glu, (63)Arg→Met, and (67)Arg→Cys) that encodes a nonco...

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Detalhes bibliográficos
Main Authors:	Chou, Yah-Huei Wu, Pollak, Martin R., Brandi, Maria L., Toss, Goran, Arnqvist, H., Atkinson, A. Brew, Papapoulos, Socrates E., Marx, Stephen, Brown, Edward M., Seidman, J. G., Seidman, Christine E.
Formato:	Artigo
Idioma:	Inglês
Publicado em:	1995
Assuntos:	Original Articles
Acesso em linha:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1801464/ https://ncbi.nlm.nih.gov/pubmed/7726161
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Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia

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