The interfamilial diversity in penetrance and expressivity of hereditary retinoblastoma was investigated in 29 families. By using a simple parameter for estimating the severity of the disease (diseased-eye-ratio), we were able to identify four families with a discrete low-penetrance phenotype. The u
A splicing mutation in RB1 in low penetrance retinoblastoma
β Scribed by E. L. Schubert; Louise C. Strong; M. F. Hansen
- Book ID
- 106136765
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 92 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0340-6717
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