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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

✍ Scribed by Tim P. Kerr; Caroline A. Sewry; Stephanie A. Robb; Roland G. Roberts


Book ID
106137434
Publisher
Springer
Year
2001
Tongue
English
Weight
158 KB
Volume
109
Category
Article
ISSN
0340-6717

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The polyglutamine binding protein 1 (PQBP1) gene plays an important role in X-linked mental retardation (XLMR). Nine of the thirteen PQBP1 mutations known to date affect the AG hexamer in exon 4 and cause frameshifts introducing premature termination codons (PTCs). However, the phenotype in this gro