A novel mutation h373y in the wilms’ tumor suppressor gene, wt1 associated with denys-drash syndrome

Human Heredity

Volumn 46, Issue 6, 1996, Pages 336-338

  Ghahremani, Majid ^a   Chart, Chi Bew ^a   Bistritzer, Tzvy ^b   Aladjem, Mordechai ^b   Tieder, Martin ^b   Pelletier, Jerry ^a  

^a MCGILL UNIVERSITY   (Canada)

^b ASSAF HAROFEH MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DENYS DRASH SYNDROME; ELECTROPHORETIC MOBILITY; HUMAN; HUMAN CELL; MALE; NEPHROBLASTOMA; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; TUMOR SUPPRESSOR GENE;

EID: 0029858138     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154374     Document Type: Article

References (3)

1. Varanasi R, Bardeesy N, Ghahre-mani M, Pctruzzi M-J, Nowak N, Adam MA, Grundy P, Shows TB, Pelletier J: Fine structure analysis of the WT1 gene in sporadic Wilms' tumors, Proc Natl Acad Sci USA 1994;91:3554-3558.
2. Little MH, Williamson KA, Mannens M, Kelsey A, Gosden C, Hastie ND, van Heyningen V: Evidence that WT1 mutations in Dcnys-Drash syndrome patients may act in a dominant-negative fashion, Hum Mol Genet 1993;2:259-264.
3. Goodyer P, Dehbi M, Torban E, Bruening W, Pelletier J: Repression of the retinoic acid receptor-a gene by the Wilms' tumor suppressor gene product, wtl, Oncogene 1995; 10:1125-1129.