Article
Fragile X syndrome at the turn of the century.
Molecular medicine today - 1 May 2000
Kooy R F, Willemsen R, Oostra B A
Abstract excerpt
Fragile X syndrome is not only the most common form of inherited cognitive impairment, it is also one of the most frequent single gene disorders. It is caused by a stretch of CGG-repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no fragile X protein is produced and disease results. Since the mutation was...
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