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
β¦ LIBER β¦
Mosaicism for an FMR1 gene deletion in a fragile X female
β Scribed by Hongxin Fan; Jessica K. Booker; Shawn E. McCandless; Vandana Shashi; Alison Fleming; Rosann A. Farber
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 88 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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