Mutational analysis in 119 families with nephronophthisis

Pediatric Nephrology

Volumn 22, Issue 3, 2007, Pages 366-370

  O'Toole, John F ^a   Otto, Edgar A ^a   Hoefele, Julia ^b   Helou, Juliana ^a   Hildebrandt, Friedhelm ^a,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF MICHIGAN   (United States)

Author keywords

BCL2; Cystic kidney disease; Cystin; Genetics; Mutation analysis; Nephronophthisis; Renal failure

Indexed keywords

CYSTINE; GENE PRODUCT; NEPHRONOPHTHISIS 1 PROTEIN; NEPHRONOPHTHISIS 2 PROTEIN; NEPHRONOPHTHISIS 3 PROTEIN; NEPHRONOPHTHISIS 4 PROTEIN; NEPHRONOPHTHISIS 5 PROTEIN; NEPHRONOPHTHISIS 6 PROTEIN; PROTEIN BCL 2; PROTEIN NPHP1; PROTEIN NPHP2; PROTEIN NPHP3; PROTEIN NPHP4; PROTEIN NPHP5; PROTEIN NPHP6; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY STUDY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HOMOZYGOSITY; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; PHENOTYPE; PRIORITY JOURNAL;

AGE OF ONSET; DNA MUTATIONAL ANALYSIS; GENES, BCL-2; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; KIDNEY FAILURE, CHRONIC; MEMBRANE PROTEINS; MUTATION; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 34248682406     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0334-9     Document Type: Article

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