A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

BMC Endocrine Disorders

Volumn 14, Issue 1, 2014, Pages

  Mastromatteo, Eugenio ^a   Lamacchia, Olga ^a   Campo, Michela R ^a   Conserva, Antonella ^a   Baorda, Filomena ^b   Cinque, Luigia ^b   Guarnieri, Vito ^b   Scillitani, Alfredo ^b   Cignarelli, Mauro ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

CaSR gene; FHH; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hypocalciuria

Indexed keywords

CALCIUM SENSING RECEPTOR; CINACALCET; CREATININE; METHIONINE; THREONINE; CALCIMIMETIC AGENT; CASR PROTEIN, HUMAN; GENETIC MARKER; NAPHTHALENE DERIVATIVE; PARATHYROID HORMONE;

ADULT; AGED; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CODON; EXTRACELLULAR CALCIUM; FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA; FATHER; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERCALCEMIA; MALE; POINT MUTATION; SON; GENETIC MARKER; GENETICS; HYPERCALCIURIA; METABOLISM; PEDIGREE; TREATMENT OUTCOME; WESTERN BLOTTING;

ADULT; AGED; BLOTTING, WESTERN; CALCIMIMETIC AGENTS; CINACALCET HYDROCHLORIDE; GENETIC MARKERS; HUMANS; HYPERCALCEMIA; HYPERCALCIURIA; MALE; NAPHTHALENES; PARATHYROID HORMONE; PEDIGREE; POINT MUTATION; RECEPTORS, CALCIUM-SENSING; TREATMENT OUTCOME;

EID: 84907953848     PISSN: None     EISSN: 14726823     Source Type: Journal    
DOI: 10.1186/1472-6823-14-81     Document Type: Article

References (24)

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