A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia

European Journal of Endocrinology

Volumn 166, Issue 5, 2012, Pages 933-940

  Falchetti, Alberto ^a   Gozzini, Alessia ^a   Terranegra, Annalisa ^b   Soldati, Laura ^c   Vezzoli, Giuseppe ^b   Leoncini, Gigliola ^a   Giusti, Francesca ^a   Franceschelli, Francesco ^a   Masi, Laura ^a   Tanini, Annalisa ^a   Cavalli, Loredana ^a   Brandi, Maria Luisa ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CALCIUM ION; CALCIUM SENSING RECEPTOR; GUANINE; THYMINE;

ADULT; AGED; ARTICLE; CALCIUM CELL LEVEL; CASR GENE; CHEMICAL ANALYSIS; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ETHNIC GROUP; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCEMIA; IN VITRO STUDY; ITALIAN; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARATHYROIDECTOMY; PATIENT MONITORING; PATIENT REFERRAL; PHENOTYPE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; STOP CODON;

ADULT; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; HYPERCALCEMIA; ITALY; MALE; MUTATION; PEDIGREE; RECEPTORS, CALCIUM-SENSING;

EID: 84862067553     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0953     Document Type: Article

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