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Identification of a Novel Calcium-Sensing Receptor Gene Mutation Causing Familial Hypocalciuric Hypercalcemia by Single-Strand Conformation Polymorphism Analysis
| Content Provider | Scilit |
|---|---|
| Author | Felderbauer, P. Hoffmann, P. Klein, W. Bulut, K. Ansorge, N. Epplen, J. Schmitz, F. Schmidt, W. |
| Copyright Year | 2005 |
| Description | Calcium-sensing receptor gene (CASR) mutations that alter the function of the G protein coupled $Ca^{2+}$-sensing receptor are reported in patients with familial hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia (ADH), and neonatal severe hyperparathyroidism (NSHPT). In search for novel disease causing mutations in the CASR gene, we screened exons 2 - 7 of the CASR gene of a family with FHH using single-strand conformation polymorphism analysis. We identified a novel CASR mutation (c.518 T > C; L173 P) in exon 4 encoding for the extracellular domain of the $Ca^{2+}$-sensing receptor. This region seems to represent a hot spot within the CASR gene with at least 13 reported disease causing mutations thus far. |
| Related Links | http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2004-830523.pdf |
| Ending Page | 34 |
| Page Count | 4 |
| Starting Page | 31 |
| ISSN | 09477349 |
| e-ISSN | 14393646 |
| DOI | 10.1055/s-2004-830523 |
| Journal | Experimental and Clinical Endocrinology & Diabetes |
| Issue Number | 01 |
| Volume Number | 113 |
| Language | English |
| Publisher | Georg Thieme Verlag KG |
| Publisher Date | 2005-01-21 |
| Access Restriction | Open |
| Subject Keyword | Journal: Experimental and Clinical Endocrinology & Diabetes Endocrinology and Metabolism Calcium-sensing Receptor Familial Hypocalciuric Hypercalcemia |
| Content Type | Text |
| Resource Type | Article |
| Subject | Endocrinology, Diabetes and Metabolism Internal Medicine Endocrinology |
