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Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome

โœ Scribed by JB Vincent; Hugh M. D. Gurling


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
63 KB
Volume
12
Category
Article
ISSN
1059-7794

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Novel point mutation within intron 10 of
โœ Yi-Chun Wang; Mei-Ling Lin; Shio Jean Lin; Yueh-Chun Li; Shuan-Yow Li ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 222 KB ๐Ÿ‘ 2 views

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