Spectrum of small length germline mutations in the RB1 gene.

@article{Lohmann1994SpectrumOS,
  title={Spectrum of small length germline mutations in the RB1 gene.},
  author={Dietmar Rudolf Lohmann and Birgit Brandt and Wolfgang H{\"o}pping and Eberhard Passarge and Bernhard Horsthemke},
  journal={Human molecular genetics},
  year={1994},
  volume={3 12},
  pages={2187-93}
}
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) were identified. When collating our data with reported mutations, recurrence of small length mutations was observed at nine sites within the RB1 gene. Most of these contained monotonic runs or direct… CONTINUE READING

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