Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

Journal of medical genetics

Volumn 39, Issue 7, 2002, Pages

  Cybulski, C ^a   Krzystolik, K ^a   Murgia, A ^a   Gorski B ^a   Debniak, T ^a   Jakubowska, A ^a   Martella, M ^a   Kurzawski, G ^a   Prost, M ^a   Kojder, I ^a   Limon, J ^a   Nowacki, P ^a   Sagan, L ^a   Bialas B ^a   Kaluza J ^a   Zdunek, M ^a   Omulecka, A ^a   Jaskolski D ^a   Kostyk, E ^a   Koraszewska Matuszewska, B ^a   Haus, O ^a   Janiszewska, H ^a   Pecold, K ^a   Starzycka, M ^a   Slomski R ^a   Cwirko, M ^a   Sikorski, A ^a   Gliniewicz, B ^a   Cyrylowski L ^a   Fiszer Maliszewska, Ł ^a   Gronwald, J ^a   Toloczko Grabarek A ^a   Zajaczek, S ^a   Lubinski J ^a   more..

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN PROTEIN LIGASE; VHL PROTEIN, HUMAN; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADRENAL TUMOR; ADULT; ARTICLE; CHILD; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE DELETION; GENETICS; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PHEOCHROMOCYTOMA; POLAND; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE DELETION; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HAPLOTYPES; HETEROZYGOTE DETECTION; HIPPEL-LINDAU DISEASE; HUMANS; LIGASES; MALE; MIDDLE AGED; PHENOTYPE; PHEOCHROMOCYTOMA; POLAND; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0036631512     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.7.e38     Document Type: Article

References (0)