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A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

Abstract:

The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. The cytogenetic expression of FRAXE is thought to be associated with mental handicap, but this is usually mild compared to that of the more common fragile X syndrome that is associated with the expression of the FRAXA fragile site. The exact incidence of FRAXE mental retardation is uncertain. We describe he...

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Ritchie, RJ More by this author
Chakrabarti, L More by this author
Taylor, GR More by this author
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Journal:
American journal of human genetics
Volume:
58
Issue:
5
Pages:
906-913
Publication date:
1996-05-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:2ade6e89-951a-422d-9bbd-77f9acfd3094
Source identifiers:
35918
Local pid:
pubs:35918

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