Identification of rare and frequent variants of the CASR gene by high-resolution melting-Reference-Cited by-同舟云学术

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Identification of rare and frequent variants of the CASR gene by high-resolution melting

Published:2012-03 Issue:5-6 Volume:413 Page:605-611
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Nissen Peter H.,Christensen Signe E.,Ladefoged Søren A.,Brixen Kim,Heickendorff Lene,Mosekilde Leif

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference20 articles.

1. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism;Pollak;Cell,1993

2. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation;Pollak;Nat Genet,1994

3. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia;Pidasheva;Hum Mutat,2004

4. Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders;Nissen;Clin Endocrinol (Oxf),2010

5. Familial hypocalciuric hypercalcaemia: a review;Christensen;Curr Opin Endocrinol Diabetes Obes,2011

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Challenges in the management of hypercalcemia in pregnancy – Case report of two cases;Case Reports in Women's Health;2024-03

2. The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia;Journal of the Endocrine Society;2022-04-04

3. Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree;Medicine;2021-06-25

4. Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population;The American Journal of Human Genetics;2020-06

5. Expanding the spectrum of genetic variants in the calcium‐sensing receptor ( CASR ) gene in hypercalcemic individuals;Clinical Endocrinology;2019-09-09

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