The genetic defect in ataxia-telangiectasia.

doi:10.1146/annurev.immunol.15.1.177

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Article

The genetic defect in ataxia-telangiectasia.

Annual review of immunology - 1 Jan 1997

Lavin M F, Shiloh Y

Abstract excerpt

The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ago. It is a multisystem disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies an...

Topics

Antibody Formation
Ataxia Telangiectasia
Ataxia Telangiectasia Mutated Proteins
Cell Cycle
Cell Cycle Proteins
Cloning, Molecular
DNA-Binding Proteins
Humans
Immunity, Cellular
Mutation
Protein Serine-Threonine Kinases
Proteins
Signal Transduction
Tumor Suppressor Proteins

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