(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. [electronic resource]
Producer: 20050412Description: 185-90 p. digitalISSN:- 0960-8966
- DNA Mutational Analysis
- Family Health
- Female
- Founder Effect
- Genealogy and Heraldry
- Genetic Testing
- Haplotypes
- Heterozygote
- Humans
- Male
- Muscular Dystrophy, Oculopharyngeal -- genetics
- Mutation -- genetics
- Pedigree
- Phenotype
- Poly(A)-Binding Protein II -- genetics
- Polymorphism, Single Nucleotide -- genetics
- Trinucleotide Repeat Expansion -- genetics
- Uruguay
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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