| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833534 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠ADH is a calcium metabolism syndrome caused by activating mutations of the CASR gene. ⺠We identified two CASR mutations in two four-generation families with ADH. ⺠One mutation was novel and we performed functional assays. ⺠The other mutation was reported and an association with heart failure was suggested. ⺠Functional assays confirmed the gain of function of the novel CASR mutation.
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Authors
Vito Guarnieri, Angela Valentina D'Elia, Filomena Baorda, Valerio Pazienza, Giorgia Benegiamo, Pietro Stanziale, Massimiliano Copetti, Claudia Battista, Franco Grimaldi, Giuseppe Damante, Fabio Pellegrini, Leonardo D'Agruma, Leopoldo Zelante,