Article
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).
American journal of human genetics - 1 Jul 1997
Mancini D, Singh S, Ainsworth P, Rodenhiser D
Abstract excerpt
A wide spectrum of mutations, ranging from point mutations to large deletions, have been described in the retinoblastoma gene (RB1). Mutations have been found throughout the gene; however, these genetic alterations do not appear to be homogeneously distributed. In particular, a significant proportion of disease-causing mutations results in the premature termination of protein synthesis, and the majority of these...
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