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Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.

Abstract:

Expansion of a polymorphic GCC-repeat at the FRAXE locus has been associated with expression of chromosome fragility at this site and cognitive impairment in some individuals previously testing negative for CGG-repeat expansion in the fragile X mental retardation-1 (FMR1) gene. To determine the frequency of FRAXE triplet repeat expansion among persons with developmental disability, 396 individuals from two institutions were studied, all of whom were negative for FMR1 repeat expansion. Clinica...

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Authors


Holden, JJ More by this author
Julien-Inalsingh, C More by this author
Chalifoux, M More by this author
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Journal:
American journal of medical genetics
Volume:
64
Issue:
2
Pages:
420-423
Publication date:
1996-08-05
DOI:
EISSN:
1096-8628
ISSN:
0148-7299
URN:
uuid:13dfdb10-9024-4b68-9173-6f5e79838f73
Source identifiers:
250429
Local pid:
pubs:250429

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