The p.P56S mutation in theVAPBgene is not due to a single founder: the first European case-Reference-Cited by-同舟云学术

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The p.P56S mutation in theVAPBgene is not due to a single founder: the first European case

Published:2010-03 Issue:3 Volume:77 Page:302-303
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Funke AD,Esser M,Krüttgen A,Weis J,Mitne-Neto M,Lazar M,Nishimura AL,Sperfeld AD,Trillenberg P,Senderek J,Krasnianski M,Zatz M,Zierz S,Deschauer M

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01319.x/fullpdf

Reference6 articles.

1. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis;Nishimura;Am J Hum Genet,2004

2. Expanding the phenotypes of the pro56ser VAPB mutation: proximal SMA with dysautonomia;Marques;Muscle Nerve,2006

3. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population;Nishimura;Hum Genet,2005

4. Mutations in VAPB are not associated with sporadic ALS;Kirby;Neurology,2007

5. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy;Conforti;J Negat Results Biomed,2006

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