Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Volumn 29, Issue 10, 2014, Pages 1902-1909

  Stratta, Piero ^a   Merlotti, Guido ^a   Musetti, Claudio ^a   Quaglia, Marco ^a   Pagani, Alessia ^a   Izzo, Cristina ^a   Radin, Elisabetta ^a   Airoldi, Andrea ^a   Baorda, Filomena ^a   Palladino, Teresa ^a   Leone, Maria P ia ^a   Guarnieri, Vito ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

AP2S1; CaSR; familial hypocalciuric hypercalcemia; GNA11; hypercalcaemia

Indexed keywords

ADAPTOR PROTEIN; AP2S1 PROTEIN, HUMAN; CALCIUM SENSING RECEPTOR; CASR PROTEIN, HUMAN; DNA; GNA11 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE; SIGMA ADAPTIN;

ADULT; AGED; BLOOD; COHORT ANALYSIS; DIFFERENTIAL DIAGNOSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; EPIDEMIOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM, PRIMARY; ITALY; MALE; METABOLISM; MIDDLE AGED; MUTATION; REAL TIME POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADULT; AGED; BLOTTING, WESTERN; COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; DNA; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM, PRIMARY; ITALY; MALE; MIDDLE AGED; MUTATION; PARATHYROID HORMONE; POLYMORPHISM, GENETIC; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING;

EID: 84921821603     PISSN: None     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu065     Document Type: Article

References (0)