Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor

Biochemical and Biophysical Research Communications

Volumn 342, Issue 3, 2006, Pages 996-1002

  Leech, Colin ^a   Lohse, Peter ^b   Stanojevic, Violeta ^a   Lechner, Andreas ^b   Göke, Burkhard ^b   Spitzweg, Christine ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Inactivating mutation

Indexed keywords

ALANINE; CALCIUM SENSING RECEPTOR; GLUTAMINE; GLYCINE; MEMBRANE PROTEIN; MUTANT PROTEIN; PARATHYROID HORMONE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CALCIUM CELL LEVEL; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CASE REPORT; CLINICAL FEATURE; CODON; DNA POLYMORPHISM; EMBRYO; EXON; FEMALE; FLUOROMETRY; GENE ACTIVITY; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPOCALCIURIA; KIDNEY CELL; LABORATORY TEST; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; WESTERN BLOTTING; WILD TYPE;

BLOTTING, WESTERN; CALCIUM; DOSE-RESPONSE RELATIONSHIP, DRUG; EXONS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA;

EID: 33644617057     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.02.018     Document Type: Article

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