The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
- PMID: 20447143
- PMCID: PMC2847198
- DOI: 10.1111/j.1399-0004.2009.01319.x
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
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References
-
- Marques VD, Barreira AA, Davis MB, et al. Expanding the phenotypes of the pro56ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve. 2006;34:731–739. - PubMed
-
- Nishimura AL, Al-Chalabi A, Zatz M. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet. 2005;118:499–500. - PubMed
-
- Kirby J, Hewamadduma CA, Hartley JA, et al. Mutations in VAPB are not associated with sporadic ALS. Neurology. 2007;68:1951–1953. - PubMed
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