Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community

Genetics in Medicine

Volumn 9, Issue 3, 2007, Pages 180-184

  Frishberg, Yaacov ^a   Ben Neriah, Ziva ^b   Suvanto, Maija ^c   Rinat, Choni ^a   Männikkö, Minna ^d   Feinstein, Sofia ^a   Becker Cohen, Rachel ^a   Jalanko, Hannu ^c   Zlotogora, Joel ^e   Kestilä, Marjo ^f  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF OULU   (Finland)

^e MINISTRY OF HEALTH   (Israel)

^f NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

Congenital nephrotic syndrome; Consanguineous populations; Homozygosity mapping

Indexed keywords

DNA; NEPHRIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 19Q; CHROMOSOME MAP; CONGENITAL NEPHROTIC SYNDROME; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IMMUNOPEROXIDASE STAINING; KIDNEY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS;

CHROMOSOMES, HUMAN, PAIR 19; CONSANGUINITY; FEMALE; GENETIC DISEASES, INBORN; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MEMBRANE PROTEINS; NEPHROTIC SYNDROME; PEDIGREE; POINT MUTATION;

EID: 34247105786     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318031c7de     Document Type: Article

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