Overview of rb gene mutations in patients with retinoblastoma: Implications for clinical genetic screening
β Scribed by J.William Harbour
- Book ID
- 117329094
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 192 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0161-6420
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Retinoblastoma is the most common primary intraocular malignancy in children, caused by inactivation of the RB1 gene on chromosome 13. We carried out a mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma in order to determine the range of mutations givi
lines 9-10: "Eight novel mutations were identified, including 4 single base changesβ¦" This should read: "Eight novel mutations were identified, including 5 single base changesβ¦" 2. Page 3, second line from bottom: "β¦(g.76940del12; IVS15del+20-33) extending from +18 to +32 of the intron (RB72)." Thi
Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and