Regular ArticleComplete Genomic Sequence of the Human Retinoblastoma Susceptibility Gene
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2020, Advances in Ophthalmology and OptometryCitation Excerpt :Unlike many other cancers, the genome-wide characterization of retinoblastoma epigenomes and transcriptomes is however very limited. Methodologies such as karyotyping and Southern blot were initially used in order to detect loss of RB1 at the chromosomal level [82,83]. The evolution of molecular biology methodologies, such as single-strand conformation polymorphism and denaturing high-performance liquid chromatography, made the detection of point mutations possible.
Role of the RB-Interacting Proteins in Stem Cell Biology
2016, Advances in Cancer ResearchCitation Excerpt :RB1 gene consists of 27 exons spanning over 180 kb of genomic DNA on human chromosome 13q14. A 4.7-kb transcript encodes a nuclear phosphoprotein consisting of 928 amino acids, the retinoblastoma protein (RB/p105) (Toguchida et al., 1993). There are two RB-related proteins, RBL1/p107 and RBL2/p130, and the corresponding genes mapped to human chromosomal region 20q11.2 and 16p12.2, respectively (Giacinti & Giordano, 2006).
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