Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis

Nephrology

Volumn 19, Issue 4, 2014, Pages 202-209

  Musetti, Claudio ^a   Quaglia, Marco ^a   Mellone, Simona ^b   Pagani, Alessia ^b   Fusco, Ileana ^b   Monzani, Alice ^b   Giordano, Mara ^b   Stratta, Piero ^a  

^a MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

chronic kidney disease; end stage renal disease (ESRD); hepatocyte nuclear factor 1 gene (HNF1B); hereditary cystic diseases; renal malformations

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; HNF1B PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHRONIC KIDNEY FAILURE; CHRONIC PYELONEPHRITIS; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INTRON; KIDNEY COLIC; KIDNEY CYST; KIDNEY DISEASE; KIDNEY HYPOPLASIA; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SEX RATIO; SOLITARY KIDNEY; AGED; CASE REPORT; CHILD; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; ITALY; KIDNEY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PROCEDURES; PROGNOSIS; RISK FACTOR; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; ITALY; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROGNOSIS; RISK FACTORS; YOUNG ADULT;

EID: 84896907266     PISSN: 13205358     EISSN: 14401797     Source Type: Journal    
DOI: 10.1111/nep.12199     Document Type: Article

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