Collagen type IV nephropathy: Genetic heterogeneity examinations in affected Hungarian families

Molecular and Cellular Probes

Volumn 25, Issue 1, 2011, Pages 28-34

  Endreffy, Emoke ^a   Ondrik, Zoltán ^b   Iványi, Béla ^c   Maróti, Zoltán ^a   Bereczki, Csaba ^a   Haszon, Ibolya ^a   Györke, Zsuzsanna ^d   Worum, Endre ^e   Németh, Krisztina ^f   Rikker, Csaba ^g   Ökrös, Zsuzsanna ^a   Túri, Sándor ^a  

^a Department of Pediatrics and Child Health Center ^*  (Hungary)

^b First Department of Internal Medicine   (Hungary)

^c UNIVERSITY OF SZEGED   (Hungary)

^d UNIVERSITY OF PÉCS   (Hungary)

^e Department of Rheumatology   (Hungary)

^f SEMMELWEIS UNIVERSITY   (Hungary)

^g Péterfy Sándor Hospital   (Hungary)

Author keywords

Col4A3, Col4A4 and Col4A5 nephropathy; Linkage analysis; Mutation analysis

Indexed keywords

COLLAGEN TYPE 4;

ADOLESCENT; ADULT; ALPORT SYNDROME; ANALYTIC METHOD; ARTICLE; BASEMENT MEMBRANE NEPHROPATHY; CHILD; CHROMOSOME 2; CLINICAL FEATURE; COLLAGEN TYPE 4 NEPHROPATHY; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; EXON; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC MARKER; GENETIC SCREENING; HEMATURIA; HEREDITARY HEMATURIA; HETEROZYGOSITY; HIGH RESOLUTION MELTING CURVE ANALYSIS; HUMAN; HUMAN TISSUE; HUNGARY; KIDNEY BIOPSY; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SCORING SYSTEM; X CHROMOSOME;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; FEMALE; GENES, X-LINKED; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKERS; GLOMERULONEPHRITIS, MEMBRANOUS; HAPLOTYPES; HEMATURIA; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NEPHRITIS, HEREDITARY; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSITION TEMPERATURE; YOUNG ADULT;

EID: 79551475045     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2010.10.001     Document Type: Article

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