Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

مواد مشابهة

• Temperature-Sensitive RB Mutations Linked to Incomplete Penetrance of Familial Retinoblastoma in 12 Families
  بواسطة: Otterson, Gregory A., وآخرون
  منشور في: (1999)
• Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function
  بواسطة: Otterson, Gregory A., وآخرون
  منشور في: (1997)
• Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
  بواسطة: Onadim, Z, وآخرون
  منشور في: (1992)
• 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
  بواسطة: Lefevre, S, وآخرون
  منشور في: (2002)
• Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas
  بواسطة: Cygan, Kamil J., وآخرون
  منشور في: (2017)