Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia

Clinical Endocrinology

Volumn 64, Issue 5, 2006, Pages 580-587

  Ward, Bryan K ^a,b   Magno, Aaron L ^a,b   Blitvich, Bradley J ^a   Rea, Alexander J ^a,b   Stuckey, Bronwyn G A ^a,c   Walsh, John P ^a,c   Ratajczak, Thomas ^a,b,d  

^a SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; CALCIUM ION; CALCIUM SENSING RECEPTOR; GLYCINE; LEUCINE; PARATHYROID HORMONE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM METABOLISM; CALCIUM SENSING RECEPTOR GENE; CELL STRAIN HEK293; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA SEQUENCE; FAMILIAL DISEASE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE; GENE FUNCTION; GENE INACTIVATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPOCALCIURIA; MISSENSE MUTATION; MOLECULAR CLONING; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS;

ANIMALS; BIOLOGICAL ASSAY; CALCIUM; CELL LINE; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; LEAST-SQUARES ANALYSIS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; RECEPTORS, CALCIUM-SENSING; TRANSFECTION;

EID: 33645979941     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02512.x     Document Type: Article

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