The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings-Reference-Cited by-同舟云学术

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Published:2003-08-12 Issue:3 Volume:64 Page:210-215
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Devon RS,Helm JR,Rouleau GA,Leitner Y,Lerman-Sagie T,Lev D,Hayden MR

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00138.x/fullpdf

Reference16 articles.

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2. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis;Yang;Nat Genet,2001

3. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis;Rosen;Nature,1993

4. Mutation screening of the ALS2 gene in sporadic and familial ALS;Hand;Arch Neurol 2003

5. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred;Gros-Louis;Ann Neurol,2003

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