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Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Abstract:
Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.

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Publisher copy:
10.1136/jmg.30.2.97

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
Journal of medical genetics
Volume:
30
Issue:
2
Pages:
97-100
Publication date:
1993-02-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:1a894240-43a2-4eea-a13e-5ced9b89dde8
Source identifiers:
35862
Local pid:
pubs:35862

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