CareLit · DOI-Nachweis · Aktuelle Neurologie
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies
DOI 10.1055/s-2005-919505
Bibliografische Angaben
Nachweis in CareLit
Autor:innenC Opherk, N Peters, T Bergmann, M Castro, J Herzog, M Dichgans
ZeitschriftAktuelle Neurologie
Ausgabe10/2005
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Mutations in the NOTCH3 gene are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an important cause of stroke in young adults. Mutations are typically located within epidermal growth factor (EGF) -like repeat domains in the extracellular part of the Notch3 receptor. Identification of the mutation is critical for genetic counselin…
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Zitierempfehlung
C Opherk, N Peters, T Bergmann, M Castro, J Herzog, M Dichgans (2005) Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Aktuelle Neurologie (10). https://doi.org/10.1055/s-2005-919505
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