Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Ana L
AL
Pelayo-Negro
Coro
C
Sánchez-Quintana
Maria C
MC
Rodríguez-Oroz
Victor
V
Volpini
Massimo
M
Zeviani
Miguel A
MA
Tola-Arribas
José
J
Berciano
Jon
J
Infante
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000409:Alanine / Q000235:genetics; D001259:Ataxia / Q000453:epidemiology / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012694:Serine / Q000235:genetics; D013030:Spain / Q000453:epidemiology; D013912:Threonine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics; D055815:Young Adult
D013912:Threonine; D012694:Serine; D014364:Tryptophan; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D000409:Alanine