A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

@article{Abalkhail2003ANF,
  title={A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.},
  author={Halah Abalkhail and John R. Mitchell and James J Habgood and Richard W. Orrell and Jacqueline de Belleroche},
  journal={American journal of human genetics},
  year={2003},
  volume={73 2},
  pages={383-9}
}
Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene defect in the remaining 80% of familial cases is, as yet, unknown. We have carried out a preliminary genome screen, using a U.K. resource of families lacking SOD1 mutations, to… CONTINUE READING

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