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Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.
Cytogenet Genome Res. 2003;100(1-4):252-60. doi: 10.1159/000072861.
Cytogenet Genome Res. 2003.
PMID: 14526187
Review.
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
van der Sluijs BM, van Engelen BG, Hoefsloot LH.
van der Sluijs BM, et al.
Hum Mutat. 2003 May;21(5):553. doi: 10.1002/humu.9138.
Hum Mutat. 2003.
PMID: 12673802
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