Journal article
Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD
Abstract
BackgroundA new locus for amyotrophic lateral sclerosis – frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p.MethodsWe identified chromosome 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) and undertook mutational screening of candidate genes within this locus.ResultsCandidate gene sequencing at this locus revealed the presence of a disease segregating stop mutation (Q342X) in the …
Authors
Momeni P; Schymick J; Jain S; Cookson MR; Cairns NJ; Greggio E; Greenway MJ; Berger S; Pickering-Brown S; Chiò A
Journal
BMC Neurology, Vol. 6, No. 1,
Publisher
Springer Nature
Publication Date
12 2006
DOI
10.1186/1471-2377-6-44
ISSN
1471-2377