An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

Journal of Human Genetics

Volumn 52, Issue 6, 2007, Pages 485-491

  Muscarella, Lucia Anna ^a   Barbano, Raffaela ^a   Augello, Bartolomeo ^a   Formica, Vincenza ^a   Micale, Lucia ^a   Zelante, Leopoldo ^a   D'Agruma, Leonardo ^a   Merla, Giuseppe ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Allelic imbalance; EMSA; Hemangioblastomas; qPCR; Von Hippel Lindau

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; CASE REPORT; CENTRAL NERVOUS SYSTEM TUMOR; CHROMOSOME; CLEAR CELL CARCINOMA; EPIDIDYMIS; GENE CONTROL; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEMANGIOBLASTOMA; HETEROZYGOSITY LOSS; HUMAN; IN VIVO STUDY; KIDNEY CARCINOMA; MALE; NUCLEOTIDE SEQUENCE; ONCOCYTOMA; PHEOCHROMOCYTOMA; PROMOTER REGION; SOMATIC MUTATION; TRANSCRIPTION REGULATION; TUMOR SUPPRESSOR GENE; VASCULAR TUMOR; VON HIPPEL LINDAU DISEASE; VON HIPPEL LINDAU GENE;

ADENOMA, OXYPHILIC; ADULT; ALLELIC IMBALANCE; BASE SEQUENCE; CEREBELLAR NEOPLASMS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; HEMANGIOBLASTOMA; HIPPEL-LINDAU DISEASE; HUMANS; KIDNEY NEOPLASMS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 34249690259     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0138-1     Document Type: Article

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