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Journal article

The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

Abstract:

Expanded trinucleotide repeats are associated with several neuropsychiatric disorders, including fragile X syndrome (FraX) which is the most common inherited form of mental retardation. It is currently thought that FraX results from having >200 CGG trinucleotide repeats, with consequent methylation of the fragile X mental retardation gene (FMR1) and loss of FMR1 protein (FMRP). Pre-mutation carriers of FraX (with 55-200 CGG trinucleotide repeats) were originally considered unaffected, alth...

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Publication status:
Published

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Publisher copy:
10.1093/brain/awh256

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Journal:
Brain : a journal of neurology
Volume:
127
Issue:
Pt 12
Pages:
2672-2681
Publication date:
2004-12-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:d2c9bfe1-aa70-43db-8eed-65e702f5f9c1
Source identifiers:
106729
Local pid:
pubs:106729

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