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Constitutional deletions predisposing to retinoblastoma
M Janson1, E Kock, M Nordenskjöld
1Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Human Genetics
|June 1, 1990
Summary
Researchers identified constitutional mutations in the retinoblastoma (Rb) gene in 3 of 66 carriers. These findings aid in identifying at-risk relatives and inform genetic counseling for hereditary retinoblastoma.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Hereditary retinoblastoma is caused by constitutional mutations in the retinoblastoma (Rb) gene.
- New mutations in the Rb gene can be inherited, posing a risk to offspring.