TY  - GEN
AU  - Rodríguez,M
AU  - Camejo,C
AU  - Bertoni,B
AU  - Braida,C
AU  - Rodríguez,M M
AU  - Brais,B
AU  - Medici,M
AU  - Roche,L
TI  - (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families
SN  - 0960-8966
PY  - 2005///0412
KW  - DNA Mutational Analysis
KW  - Family Health
KW  - Female
KW  - Founder Effect
KW  - Genealogy and Heraldry
KW  - Genetic Testing
KW  - Haplotypes
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Muscular Dystrophy, Oculopharyngeal
KW  - genetics
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Poly(A)-Binding Protein II
KW  - Polymorphism, Single Nucleotide
KW  - Trinucleotide Repeat Expansion
KW  - Uruguay
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2004.10.012
ER  -