| The cytogenetics of ataxia telangiectasia. | |
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MedLine Citation:
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PMID: 1756458 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Ataxia-telangiectasia (AT) is a heterogeneous autosomal recessive disorder marked by cerebellar ataxia, oculocutaneous telangiectases, hypersensitivity to ionizing radiation, immunodeficiency, and cancer susceptibility. AT is also a spontaneous chromosomal breakage syndrome, notable for tissue-specific cytogenetic changes and telomeric fusions. Molecular characterization of rearrangements specific to T-lymphocytes suggests that a DNA repair/processing defect is potentially responsible for the diverse array of chromosomal abnormalities observed in a variety of AT cell types. |
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Authors:
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T L Kojis; R A Gatti; R S Sparkes |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Cancer genetics and cytogenetics Volume: 56 ISSN: 0165-4608 ISO Abbreviation: Cancer Genet. Cytogenet. Publication Date: 1991 Oct |
Date Detail:
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Created Date: 1992-01-31 Completed Date: 1992-01-31 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7909240 Medline TA: Cancer Genet Cytogenet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 143-56 Citation Subset: IM |
Affiliation:
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Jules Stein Eye Institute, Los Angeles, CA 90024-7008. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Ataxia Telangiectasia
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genetics* Chromosome Aberrations* Chromosome Inversion Chromosomes, Human, Pair 14* Chromosomes, Human, Pair 7* DNA Repair Humans Lymphocytes Telomere Translocation, Genetic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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