Article
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.
Nature genetics - 1 Oct 1993
Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D
Abstract excerpt
Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the first use of homozygosity mapping for primary linka...
Topics
- Adult
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 8
- Female
- Friedreich Ataxia
- Genetic Linkage
- Haplotypes
- Homozygote
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Tunisia
- Vitamin E Deficiency