Associated Papers
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
García-Castaño A et al.
European Journal of Endocrinology, 2019
A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.
Carlsson ER et al.
Case Reports in Endocrinology, 2019
30895164 (PubMed )
Supplement: 9468252.f1.pdf
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M et al.
European Journal of Endocrinology, 2016
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
Aparicio López C et al.
European Journal of Pediatrics, 2012
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