共 50 条
- [43] Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (02): : 864 - 870
- [48] Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2020, 105 (04): : E1322 - E1330
- [49] A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (11): : 4372 - 4379