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Fragile (X) expression, age and the degree of intellectual handicap in the male

✍ Scribed by Turner, Gillian ;Partington, Michael W.


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
218 KB
Volume
30
Category
Article
ISSN
0148-7299

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Deletion in the FMR1 gene in a fragile-X
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The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMRl gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMRl gene. While this is usually the case, some suspect