The novel WT1 gene mutation p.H377N associated to denys-drash syndrome

Journal of Pediatric Hematology/Oncology

Volumn 32, Issue 6, 2010, Pages 486-488

  Guaragna, Mara Sanches ^a   Soardi, Fernanda Caroline ^a   Assumpção, Juliana Godoy ^b   De Jesus Girotto Zambaldi, Lílian ^b   Cardinalli, Izilda Aparecida ^b   Yunes, José Andrés ^b   De Mello, Maricilda Palandi ^a   Brandalise, Silvia Regina ^a,b   Dos Santos Aguiar, Simone ^b  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b CENTRO INFANTIL BOLDRINI   (Brazil)

Author keywords

Denys Drash syndrome; Disorder of sex development; Mutation; Wilms' Tumor; WT1 gene

Indexed keywords

ASPARAGINE; GENOMIC DNA; HISTIDINE; PROTEIN ZINC FINGER 2; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CASE REPORT; CHROMOSOME ANALYSIS; DEATH; DENYS DRASH SYNDROME; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEMODIALYSIS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INFANT; INTRON; KIDNEY FAILURE; KIDNEY TUMOR; MYCOSIS; NEPHROBLASTOMA; OLIGURIA; PERITONITIS; PRIORITY JOURNAL; PROTEIN CONFORMATION; SEQUENCE ANALYSIS; TUMOR BIOPSY; TUMOR SUPPRESSOR GENE; URINARY TRACT INFECTION; ZINC FINGER MOTIF; FATALITY; GENETICS; MALE; NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; PSEUDOHERMAPHRODITISM;

DENYS-DRASH SYNDROME; FATAL OUTCOME; GENES, WILMS TUMOR; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY NEOPLASMS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PSEUDOHERMAPHRODITISM; WILMS TUMOR;

EID: 77955855633     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181e5e20d     Document Type: Article

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