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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Abstract:

We have cloned the fragile site FRAXE and demonstrate that individuals with this fragile site possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome. Normal individuals have 6-25 copies of the GCC repeat, whereas mentally retarded, FRAXE-positive individuals have > 200 copies and also have methylation at the CpG island. This situation is similar to that seen at the FRAXA locus and is another example in which a trinucleotide repeat expansion is ass...

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Journal:
Cell
Volume:
74
Issue:
1
Pages:
127-134
Publication date:
1993-07-01
DOI:
EISSN:
1097-4172
ISSN:
0092-8674
Source identifiers:
35839
Language:
English
Keywords:
Pubs id:
pubs:35839
UUID:
uuid:3c60c090-e5c2-4377-82b0-c476bb84ef16
Local pid:
pubs:35839
Deposit date:
2012-12-19

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