Show simple item record Hes, F. J. McKee, S. Taphoorn, M. J. Rehal, P. van Der Luijt, R. B. McMahon, R van Der Smagt, J. J. Dow, D. Zewald, R. A. Whittaker, J. Lips, C. J. MacDonald, F. Pearson, P. L. Maher, E. R. 2013-11-14T22:02:29Z 2013-11-14T22:02:29Z 2000-12
dc.identifier.citation Hes , F J , McKee , S , Taphoorn , M J , Rehal , P , van Der Luijt , R B , McMahon , R , van Der Smagt , J J , Dow , D , Zewald , R A , Whittaker , J , Lips , C J , MacDonald , F , Pearson , P L & Maher , E R 2000 , ' Cryptic von Hippel-Lindau disease : germline mutations in patients with haemangioblastoma only ' Journal of Medical Genetics , vol 37 , no. 12 , pp. 939-943 . DOI: 10.1136/jmg.37.12.939 en
dc.identifier.issn 1468-6244
dc.identifier.other PURE: 3537359
dc.identifier.other PURE UUID: 7aee809e-6f45-4a20-90ee-b04a16900367
dc.identifier.other PubMed: 11106358
dc.identifier.other Scopus: 0034535884
dc.identifier.other PubMedCentral: PMC1734505
dc.identifier.other 2160/12585
dc.description.abstract Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients. en
dc.format.extent 5 en
dc.language.iso eng
dc.relation.ispartof Journal of Medical Genetics en
dc.rights en
dc.subject Adolescent en
dc.subject Adult en
dc.subject Aged en
dc.subject Central Nervous System Neoplasms en
dc.subject Diagnosis, Differential en
dc.subject Female en
dc.subject Gene Frequency en
dc.subject Germ-Line Mutation en
dc.subject Hemangioblastoma en
dc.subject Humans en
dc.subject Male en
dc.subject Middle Aged en
dc.subject Morbidity en
dc.subject Pedigree en
dc.subject von Hippel-Lindau Disease en
dc.title Cryptic von Hippel-Lindau disease : germline mutations in patients with haemangioblastoma only en
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article en
dc.contributor.institution Department of Biological, Environmental and Rural Sciences en
dc.contributor.institution Department of Lifelong Learning en
dc.description.status Peer reviewed en

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