(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. [electronic resource]
- Neuromuscular disorders : NMD Feb 2005
- 185-90 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2004.10.012 doi
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