Ataxia-telangiectasia: closer to unraveling the mystery.

doi:10.1159/000472285

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Article

Ataxia-telangiectasia: closer to unraveling the mystery.

European journal of human genetics : EJHG - 1 Jan 1995

Shiloh Y

Abstract excerpt

Ataxia-telangiectasia (A-T) is a progressive genetic disorder affecting the central nervous and immune systems, and involving chromosomal instability, cancer predisposition, radiation sensitivity and cell cycle abnormalities. Studies of the cellular phenotype of A-T have pointed to a defect in a...

Topics

Ataxia Telangiectasia
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA Damage
DNA Repair
Female
Genetic Heterogeneity
Genetic Linkage
Heterozygote
Humans
Male
Phenotype
Signal Transduction

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