Article
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
American journal of medical genetics. Part A - 1 Apr 2004
Coutinho Gabriela, Mitui Midori, Campbell Catarina, Costa Carvalho Beatriz T, Nahas Shareef, Sun Xia, Huo Yong, Lai Chih-Hung, Thorstenson Yvonne, Tanouye Robert, Raskin Salmo, Kim Chong A, Llerena Juan, Gatti Richard A
Abstract excerpt
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 instability, and predisposition to cancer. The ATM gene spans...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Brazil
- Cell Cycle Proteins
- Chromatography, High Pressure Liquid
- DNA-Binding Proteins
- Genetic Variation
- Haplotypes
- Humans