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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

Rare DiseasesMendelian DisorderOculopharyngeal Muscular DystrophyGenetic DisorderGeneticsUnequal RecombinationDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationSystems BiologyMedicineMutational MechanismClinical Genetics