A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma.
Lefévre
S H
SH
Chauveinc
L
L
Stoppa-Lyonnet
D
D
Michon
J
J
Lumbroso
L
L
Berthet
P
P
Frappaz
D
D
Dutrillaux
B
B
Chevillard
S
S
Malfoy
B
B
D002675:Child, Preschool; D005091:Exons; D005260:Female; D016161:Genes, Retinoblastoma; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation; D011742:Pyrimidine Nucleotides / Q000235:genetics; D022821:RNA Splice Sites; D012334:RNA, Neoplasm / Q000032:analysis; D012175:Retinoblastoma / Q000235:genetics* / Q000378:metabolism; D016160:Retinoblastoma Protein / Q000235:genetics*
D011742:Pyrimidine Nucleotides; D022821:RNA Splice Sites; D012334:RNA, Neoplasm; D016160:Retinoblastoma Protein