Autosomal dominant hypocalcemia: A novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 2, 2003, Pages 605-610

  Tan, Y M ^a   Cardinal, J ^b   Franks, A H ^c   Mun, H C ^c   Lewis, N ^c   Harris, L B ^c   Prins, J B ^b   Conigrave, Arthur D ^c  

^a TOWNSVILLE HOSPITAL   (Australia)

^b PRINCESS ALEXANDRA HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; EXTRACELLULAR SPACE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPOCALCEMIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

ADULT; AEQUORIN; CALCIUM; CYSTEINE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HUMANS; HYPOCALCEMIA; LUMINESCENT MEASUREMENTS; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; RESTRICTION MAPPING; SIGNAL TRANSDUCTION;

EID: 0037323433     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020081     Document Type: Article

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