Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: Evidence for clustering of extracellular domain mutations at calcium-binding sites

Human Molecular Genetics

Volumn 21, Issue 12, 2012, Pages 2768-2778

  Hannan, Fadil M ^a   Nesbit, M Andrew ^a   Zhang, Chen ^b   Cranston, Treena ^c   Curley, Alan J ^a   Harding, Brian ^a   Fratter, Carl ^c   Rust, Nigel ^d   Christie, Paul T ^a   Turner, Jeremy J O ^a   Lemos, Manuel C ^a   Bowl, Michael R ^a   Bouillon, Roger ^e   Brain, Caroline ^f   Bridges, Nicola ^g   Burren, Christine ^h   Connell, John M ⁱ   Jung, Heike ^j,k   Marks, Eileen ^l   McCredie, David ^m   Mughal, Zulf ⁿ   Rodda, Christine ^o   Tollefsen, Sherida ^p   Brown, Edward M ^q   Yang, Jenny J ^b   Thakker, Rajesh V ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b GEORGIA STATE UNIVERSITY   (United States)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^h BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

ⁱ UNIVERSITY OF DUNDEE   (United Kingdom)

^j UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^k LILLY DEUTSCHLAND GMBH   (Germany)

^l ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^m ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁿ ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^o MONASH UNIVERSITY   (Australia)

^p SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^q BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CALCIUM BINDING; CONTROLLED STUDY; GENE CLUSTER; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCALCEMIA; HYPOCALCEMIA; HYPOCALCIURIA; IN VITRO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL;

BINDING SITES; CALCIUM; GENOTYPE; HEK293 CELLS; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; INFANT, NEWBORN; MODELS, MOLECULAR; MUTATION; MUTATION RATE; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CALCIUM-SENSING;

DIONAEA;

EID: 84861734350     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds105     Document Type: Article

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