Deletion in the FMR1 gene in a fragile-X
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Mannermaa, Arto; Pulkkinen, Leena; Kajanoja, Eliisa; Ryynänen, Markku; Saarikosk
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Article
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1996
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John Wiley and Sons
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English
⚖ 298 KB
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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