Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.
Quan
F
F
DNA Diagnostic Laboratory, Oregon Health Sciences University, Portland, USA.
Grompe
M
M
Jakobs
P
P
Popovich
B W
BW
D001483:Base Sequence; D015139:Blotting, Southern; D002636:Cherubism / Q000235:genetics*; D002648:Child; D004247:DNA; D005091:Exons; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D017384:Sequence Deletion
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human