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A nonsense mutation in FMR1 causing fragile X syndrome

✍ Scribed by Grønskov, Karen; Brøndum-Nielsen, Karen; Dedic, Alma; Hjalgrim, Helle


Book ID
109849333
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
215 KB
Volume
19
Category
Article
ISSN
1018-4813

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