DNA-based diagnosis of the von Hippel-Lindau syndrome

American Journal of Ophthalmology

Volumn 129, Issue 2, 2000, Pages 258-260

  Patel, Reshma J ^a   Appukuttan, Binoy ^a   Ott, Sandra ^a   Wang, Xiaoguang ^a   Stout, J Timothy ^a  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

ARTICLE; FAMILY HISTORY; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HEMANGIOBLASTOMA; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRIORITY JOURNAL; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; CEREBELLAR NEOPLASMS; CHILD; DNA; DNA PRIMERS; GENE DELETION; GENES, TUMOR SUPPRESSOR; GENETIC SCREENING; HEMANGIOBLASTOMA; HIPPEL-LINDAU DISEASE; HUMANS; LASER COAGULATION; LIGASES; MALE; PEDIGREE; POINT MUTATION; PROTEINS; RETINAL NEOPLASMS; SPINAL CORD NEOPLASMS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0033953989     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)00328-1     Document Type: Article

References (5)

1. Latif F., Tory K., Gnarra J., et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 260:1993;1317-1320.
2. Crossey P.A., Richards F.M., Foster K., et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet. 3:1994;1303-1308.
3. Crossey P.A., Foster K., Richards F.M., et al. Molecular genetic investigations of the mechanism of tumorigenesis in von Hippel-Lindau disease analysis of allele loss in VHL tumors . Hum Genet. 93:1994;53-58.
4. 19 is a biologically active product of the von-Hippel-Lindau gene arising from internal translation initiation. Proc Natl Acad Sci USA. 95:1998;11661-11666.
5. Gnarra J.R., Zhou S., Merril M.J., et al. Post-transcriptional regulation of vascular endothelial growth factor by the product of the VHL tumor suppressor gene. Proc Natl Acad Sci USA. 93:1996;10589-10594.