title: 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.
authors: S H
authors: SH
authors: Lefévre
authors: L
authors: L
authors: Chauveinc
authors: D
authors: D
authors: Stoppa-Lyonnet
authors: J
authors: J
authors: Michon
authors: L
authors: L
authors: Lumbroso
authors: P
authors: P
authors: Berthet
authors: D
authors: D
authors: Frappaz
authors: B
authors: B
authors: Dutrillaux
authors: S
authors: S
authors: Chevillard
authors: B
authors: B
authors: Malfoy
mesh_terms: 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*
chemical_list: D011742:Pyrimidine Nucleotides; D022821:RNA Splice Sites; D012334:RNA, Neoplasm; D016160:Retinoblastoma Protein