ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype

@article{Babaei2005ATMHA,
  title={ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype},
  author={Mahnoush Babaei and Midori Mitui and Eric R. Olson and Richard A. Gatti},
  journal={Human Genetics},
  year={2005},
  volume={117},
  pages={101-106}
}
Ataxia–telangiectasia (A–T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control, and DNA repair. We analyzed the 11q22-23 haplotypes and associated mutations of 16 Iranian families. We utilized standardized short tandem repeat (STR) haplotypes to enhance… CONTINUE READING

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