Article
Spectrum of small length germline mutations in the RB1 gene.
Human molecular genetics - 1 Dec 1994
Lohmann D R, Brandt B, Höpping W, Passarge E, Horsthemke B
Abstract excerpt
A screening method based on multiplexed automated fragment length analysis of polymerase chain reaction products was used to identify germline mutations in the RB1 gene. By screening 106 unrelated patients with hereditary retinoblastoma, 20 small deletions (1-18 bp) and seven insertions (1-5 bp)...
Topics
- Base Sequence
- Child, Preschool
- DNA Transposable Elements
- Eye Neoplasms
- Gene Deletion
- Genes, Retinoblastoma
- Genetic Variation
- Germ-Line Mutation
- Humans
- Infant
- Molecular Sequence Data
- Retinoblastoma