Novel point mutation within intron 10 of
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Yi-Chun Wang; Mei-Ling Lin; Shio Jean Lin; Yueh-Chun Li; Shuan-Yow Li
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Article
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1997
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John Wiley and Sons
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English
⚖ 222 KB
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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