Siblings with recessive oculopharyngeal muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference4 articles.
1. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy;Brais;Nat Genet,1998
2. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease;Brais;Cytogenet Genome Res,2003
3. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population;Hill;Brain,2001
4. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism;Robinson;Hum Genet,2005
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