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Molecular pathology of ataxia telangiectasia

โœ Scribed by Taylor, A M R

Book ID
119971692
Publisher
BMJ Publishing Group
Year
2005
Tongue
English
Weight
137 KB
Volume
58
Category
Article
ISSN
0021-9746

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Molecular characterization of ataxia tel
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We compared inversions of chromosome 14 in an ataxia telangiectasia clone and in a malignant T cell line (SUP-T1). The R-banding chromosome analysis showed a clear difference between the distal breakpoint of the two inversions. Fine mapping of the distal breakpoint in the ataxia telangiectasia inv(1

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To delimit the 14q32.1 recurrent breakpoint of ataxia telangiectasia clones, we performed an in situ hybridization study with various probes located on the 14q32 band. We thus mapped this breakpoint between the D14S1 and Pi loci. Furthermore, an interstitial duplication including D14S1 and a part of