Article
Polyalanine tract disorders and neurocognitive phenotypes.
Advances in experimental medicine and biology - 1 Jan 2012
Shoubridge Cheryl, Gecz Jozef
Abstract excerpt
Expansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these nine diseases are due to expansions in transcription factors and give rise to congenital disorders, many with neurocognitive phenotypes. Disease-causing expansions vary in length dependingupon the gene in question, with the severity of the associated clinical phenotype generally increasing with length of the polyalanine...
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