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
A molecular study of first and second RB1 mutational hits in retinoblastoma patients
✍ Scribed by Ana Flávia Belchior de Andrade; Raquel da Hora Barbosa; Fernando Regla Vargas; Sima Ferman; Ana Lúcia Eisenberg; Luisa Fernandes; Cibele R. Bonvicino
- Book ID
- 113512814
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 141 KB
- Volume
- 167
- Category
- Article
- ISSN
- 0165-4608
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## Abstract We report the presence of a hemizygous inactivating germ‐line __RB1__ mutation (a recurrent g.78250C→T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showe
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