Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

@article{Monrs1996EvidenceFA,
  title={Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.},
  author={Eug{\`e}nia Monr{\'o}s and J. S{\'a}nchez Ca{\~n}izares and Mar{\'i}a Dolores Molt{\'o} and F Rodius and Lorenzo Montermini and Mireille Coss{\'e}e and Francisco Mart{\'i}nez and F{\'e}lix Prieto and Rosa de Frutos and M. Pierre K{\"o}nig and Massimo Pandolfo and Jaume Bertranpetit and Francesc Palau},
  journal={European journal of human genetics : EJHG},
  year={1996},
  volume={4 4},
  pages={191-8}
}
Haplotype analysis is a powerful approach to understand the spectrum of mutations accounting for a disease in a homogeneous population. We show that haplotype variation for 10 markers linked to the Friedreich ataxia locus (FRDA) argues in favor of an important mutation homogeneity in the Spanish population, and positions the FRDA locus in the region where it has been recently isolated. We also report the finding of a new single nucleotide polymorphism called FAD1. The new marker shows a very… CONTINUE READING