TRPC6 Mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype

Clinical Journal of the American Society of Nephrology

Volumn 6, Issue 7, 2011, Pages 1626-1634

  Gigante, Maddalena ^a   Caridi, Gianluca ^b   Montemurno, Eustacchio ^a   Soccio, Mario ^a   D'Apolito, Maria ^a   Cerullo, Giuseppina ^a   Aucella, Filippo ^c   Schirinzi, Annalisa ^a   Emma, Francesco ^d   Massella, Laura ^d   Messina, Giovanni ^e   de Palo, Tommaso ^e   Ranieri, Elena ^a   Ghiggeri, Gian Marco ^b   Gesualdo, Loreto ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF BARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOSPORIN; DNA POLYMERASE; NEPHRIN; PREDNISONE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADOLESCENT; ADULT; ARTICLE; CALCIUM CELL LEVEL; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; GLOMERULUS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOFLUORESCENCE; IMMUNOGLOBULIN A NEPHROPATHY; KIDNEY BIOPSY; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; NEPHROTIC SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEINURIA; STEROID RESISTANT NEPHROTIC SYNDROME; UPREGULATION;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEK293 CELLS; HUMANS; INFANT; ITALY; KIDNEY; MALE; MEMBRANE PROTEINS; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RISK FACTORS; STEROIDS; TRANSFECTION; TRPC CATION CHANNELS;

EID: 79960314279     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.07830910     Document Type: Article

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