A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.
Tarleton
J
J
Kenneson
A
A
Taylor
A K
AK
Crandall
K
K
Fletcher
R
R
Casey
R
R
Hart
P S
PS
Hatton
D
D
Fisch
G
G
Warren
S T
ST
D001483:Base Sequence; D015139:Blotting, Southern; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology*; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats / Q000235:genetics*
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human