A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia

European Journal of Endocrinology

Volumn 165, Issue 2, 2011, Pages 359-363

  Al Salameh, Abdallah ^a   Cetani, Filomena ^b   Pardi, Elena ^b   Vulpoi, Carmen ^c   Pierre, Peggy ^a   De Calan, Loïc ^d   Guyetant, Serge ^d   Jeunemaitre, Xavier ^e   Lecomte, Pierre ^a  

^a CHU BRETONNEAU   (France)

^b UNIVERSITY OF PISA   (Italy)

^c GRIGORE T POPA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^d UNIVERSITY HOSPITAL OF TOURS   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; CREATININE; INOSITOL PHOSPHATE; ISOLEUCINE; PHOSPHORUS; THREONINE; PARATHYROID HORMONE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM SENSING RECEPTOR GENE; CASE REPORT; CELL STRAIN COS7; CONTROLLED STUDY; CREATININE CLEARANCE; EXON; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; MUSCULOSKELETAL PAIN; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PARATHYROID HYPERPLASIA; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; AMINO ACID SEQUENCE; ANIMAL; BIOLOGICAL MODEL; CELL STRAIN COS1; CERCOPITHECUS; FAMILY; FRANCE; GENETIC TRANSFECTION; GENETICS; MALE; MOLECULAR GENETICS; PEDIGREE; CALCIUM BLOOD LEVEL; CALCIUM HOMEOSTASIS; CELL LEVEL; CODON; FAMILIAL DISEASE; GENE AMPLIFICATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN TISSUE; METABOLIC DISORDER; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROIDECTOMY; PHOSPHATE BLOOD LEVEL; PROTEIN DOMAIN; RECEPTOR GENE; TRANSIENT TRANSFECTION; WILD TYPE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; FAMILY; FEMALE; FRANCE; HUMANS; HYPERCALCEMIA; MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTORS, CALCIUM-SENSING; TRANSFECTION;

EID: 79960159182     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0141     Document Type: Article

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