Rodríguez, M

(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