Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

@article{Coutinho2004FiveHA,
  title={Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.},
  author={Gabriela Coutinho and Midori Mitui and Catarina Campbell and Beatriz Tavares Costa Carvalho and Shareef A Nahas and Xia Sun and Yong Huo and Chih-Hung Lai and Yvonne R. Thorstenson and Robert Tanouye and S Raskin and Chong A E Kim and Juan Llerena and Richard A. Gatti},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={126A 1},
  pages={33-40}
}
We have studied the molecular genetics of 27 Brazilian families with ataxia telangiectasia (AT). Five founder effect haplotypes accounted for 55.5% of the families. AT is an autosomal recessive disorder of childhood onset characterized by progressive cerebellar ataxia, ocular apraxia, telangiectasia, immunodeficiency, radiation sensitivity, chromosomal… CONTINUE READING