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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

✍ Scribed by Verheij, Coleta; Bakker, Cathy E.; de Graaff, Esther; Keulemans, Joke; Willemsen, Rob; Verkerk, Annemieke J. M. H.; Galjaard, Hans; Reuser, Arnold J. J.; Hoogeveen, André T.; Oostra, Ben A.


Book ID
109784480
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
372 KB
Volume
363
Category
Article
ISSN
0028-0836

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Novel point mutation within intron 10 of
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The majority of cases involving fragile X syndrome are due to expansion of a (CGG)n trinucleotide repeat at the 5' untranslated region of the FMR-1 gene. Deletion and intragenic loss of function mutations of the FMR-1 gene also have been reported. Here, we report a C to T point mutation at the 14th