The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Cagnoli
Claudia
C
Brussino
Alessandro
A
Di Gregorio
Eleonora
E
Brusco
Alfredo
A
Stevanin
Giovanni
G
Durr
Alexandra
A
Brice
Alexis
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D004252:DNA Mutational Analysis; D005060:Europe; D005260:Female; D005799:Genes, Dominant; D005828:Genetics, Population; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D013049:Spectrin / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D044465:White People / Q000235:genetics
D020662:Guanine Nucleotide Exchange Factors; C503982:PLEKHG4 protein, human; D013049:Spectrin