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Array CGH of ALS patients – new candidate genes

S. Waibel, A.C. Ludolph, H.H. Ropers, R. Ullmann · Aktuelle Neurologie · 2006 · Heft 09

Dokument
1134366
CareLit-ID
Jahr
2006
Publikation
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
S. Waibel, A.C. Ludolph, H.H. Ropers, R. Ullmann
Ausgabe
Heft 09 / 2006
Seiten
–
Erschienen: 2006-09-27 00:00:00
ISSN
0302-4350

Zusammenfassung

Aims: Amyotrophic lateral sclerosis (ALS) is a devastating disorder of the central nervous system that leads to progressive loss of upper and lower motor neurons. Methods: We have used array comparative genomic hybridisation (array CGH) to screen patients with definite ALS for cryptic chromosomal aberrations in the whole genome. Results: In 113 patients, we detected several deletions and duplications. Most interestingly, two patients showed duplications at the site of the KIF25 gene on chromosome 6q27, one patient had an alteration on chromosome 6p21.2 (heavy chain dynein polypeptide, DNAH8), and a fourth had an…

Schlagworte

Amyotrophic Lateral Sclerosis Aktuelle Neurologie