Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Research Abstract Details 

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Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Abstract Text:

U Felbor,S Gaetzner,D J Verlaan,R Vijzelaar,G A Rouleau,A M Siegel,U Felbor,S Gaetzner,D J Verlaan,R Vijzelaar,G A Rouleau,A M Siegel,U Felbor,S Gaetzner,D J Verlaan,R Vijzelaar,G A Rouleau,A M Siegel,

Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually associated with the occurrence of multiple CCMs and occur with a frequency of 1:2,000 to 1:10,000. In this study, eight isolated cases with multiple CCMs but no CCM1-3 point mutation were analyzed using the multiplex ligation-dependent probe amplification assay. Four genomic rearrangements were identified including a previously unreported large duplication within the CCM1 gene and a novel deletion involving the entire coding region of the CCM2 gene. Consequently, systematic screening for CCM deletions/duplications is recommended.

Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Publishing Authors By Initials

U Felbor,S Gaetzner,DJ Verlaan,R Vijzelaar,GA Rouleau,AM Siegel,U Felbor,S Gaetzner,DJ Verlaan,R Vijzelaar,GA Rouleau,AM Siegel,U Felbor,S Gaetzner,DJ Verlaan,R Vijzelaar,GA Rouleau,AM Siegel,

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Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neurogenetics

VOLUME: 8

Page Numbers: 149-53

Journal Abbreviation: Neurogenetics

ISSN: 1364-6745

DAY: 9

MONTH: 01

YEAR: 2007

Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Information

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LANGUAGE: eng

NlmUniqueID: 9709714

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Grant and Affiliation Information for Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

AFFILIATION: Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany, felbor@biozentrum.uni-wuerzburg.de.

Country: United States

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MEDLINETA: Neurogenetics

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