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

Những quyển sách tương tự

• Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.
  Bằng: Bremner, R, et al.
  Được phát hành: (1997)
• Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
  Bằng: Imbert‐Bouteille, Marion, et al.
  Được phát hành: (2019)
• The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
  Bằng: Lohmann, D. R., et al.
  Được phát hành: (1996)
• A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1
  Bằng: Eloy, Philippine, et al.
  Được phát hành: (2016)
• Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
  Bằng: Onadim, Z, et al.
  Được phát hành: (1992)