Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms

Human Molecular Genetics

Volumn 7, Issue 4, 1998, Pages 709-714

  Klamt, Barbara ^a   Koziell, Ania ^b   Poulat, Francis ^c   Wieacker, Peter ^d   Scambler, Peter ^b   Berta, Philippe ^c   Gessler, Manfred ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ETABLISSEMENT FRANÇAIS DU SANG   (France)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYPTORCHISM; DENYS DRASH SYNDROME; DISEASE SEVERITY; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; FRASIER SYNDROME; GENE MUTATION; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOSPADIAS; INTRON; KIDNEY DISEASE; KIDNEY FAILURE; MALE; NEPHROBLASTOMA; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCLEROSIS; SOMATIC MUTATION; UROGENITAL SYSTEM;

EID: 0031922880     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.4.709     Document Type: Article

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