CareLit · DOI-Nachweis · Aktuelle Neurologie
Microarray-based molecular diagnostic testing in HSP
DOI 10.1055/s-2007-987539
Bibliografische Angaben
Nachweis in CareLit
Autor:innenL Schöls, P Bauer, M Bonin, C Dufke, O Rieß, R Schüle
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Hereditary spastic paraplegias (HSP) are a genetically highly heterogeneous group of disorders. To date 30 genetic loci and 13 genes have been described (SPG1–33), two of which only this year. The most common form of HSP is SPG4, caused by spastin mutations, that accounts for about 50% of autosomal dominant disease. Other forms of HSP like SPG13 (HSP60 mutations) have been identified in single families o…
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Zitierempfehlung
L Schöls, P Bauer, M Bonin, C Dufke, O Rieß, R Schüle (2007) Microarray-based molecular diagnostic testing in HSP. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987539
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