Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma
✍ Scribed by Dietmar R. Lohmann; Martin Gerick; Birgit Brandt; Ulrich Oelschläger; Birgit Lorenz; Eberhard Passarge; Bernhard Horsthemke
- Book ID
- 119770047
- Publisher
- American Society of Human Genetics
- Year
- 1997
- Tongue
- English
- Weight
- 326 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/514845
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Retinoblastoma is the most common intraocular malignancy in children. It is estimated that 60 percent of cases are nonhereditary and unilateral, 15% are hereditary and unilateral, and 25 percent are hereditary and bilateral. Hereditary predisposition for retinoblastoma is caused by germline mutation
Mutations in both alleles of the RB1 gene are causal for the development of retinoblastoma, a childhood tumor of the eye. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. Data on small mutations are listed in a locus specific database available at http://w
We have analyzed the 27 exons and the promoter region of the RBI gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. For improvement over previous studies, a new set of primers has been designed, which allow for amplification of the coding