Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. [electronic resource]
Producer: 20140415Description: 447-57 p. digitalISSN:- 1559-1174
- Adult
- Amino Acid Substitution
- Ataxia Telangiectasia -- genetics
- Ataxia Telangiectasia Mutated Proteins -- chemistry
- Breast Neoplasms -- genetics
- Caffeine -- pharmacology
- Child
- Exons -- genetics
- Female
- G2 Phase
- Heterozygote
- Humans
- Lymphocytes -- drug effects
- Male
- Micronucleus Tests
- Mutation, Missense
- Neoplastic Syndromes, Hereditary -- genetics
- Neurologic Examination
- Pedigree
- Phenotype
- RNA Splice Sites -- genetics
- Radiation Tolerance -- genetics
- Recombinational DNA Repair -- genetics
- Rhabdomyosarcoma, Embryonal -- genetics
- S Phase
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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