Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 7, 2007, Pages 2616-2623

  Zajickova, Katerina ^a,b   Vrbikova, Jana ^b   Canaff, Lucie ^a   Pawelek, Peter D ^c   Goltzman, David ^a   Hendy, Geoffrey N ^a  

^a ROYAL VICTORIA HOSPITAL   (Canada)

^b INSTITUTE OF ENDOCRINOLOGY   (Czech Republic)

^c Gina Cody School of Engineering and Computer Science   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; GENOMIC DNA; MITOGEN ACTIVATED PROTEIN KINASE; MUTANT PROTEIN; PARATHYROID HORMONE; VITAMIN D;

ADULT; ARTICLE; BABY; CALCIUM BLOOD LEVEL; CASE REPORT; CELL STRAIN HEK293; CELL SURFACE; COMORBIDITY; DAUGHTER; DISEASE COURSE; DISEASE SEVERITY; EMBRYO; ENZYME ACTIVATION; EXON; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FAMILY STUDY; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPOCALCIURIA; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; TRANSIENT TRANSFECTION; VITAMIN D DEFICIENCY; VITAMIN SUPPLEMENTATION;

EID: 34447119567     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-0123     Document Type: Article

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