Article
Detection of mosaic RB1 mutations in families with retinoblastoma.
Human mutation - 1 May 2009
Rushlow Diane, Piovesan Beata, Zhang Katherine, Prigoda-Lee Nadia L, Marchong Mellone N, Clark Robin D, Gallie Brenda L
Abstract excerpt
The RB1 gene mutation detection rate in 1,020 retinoblastoma families was increased by the use of highly sensitive allele specific-PCR (AS-PCR) to detect low-level mosaicism for 11 recurrent RB1 CGA>TGA nonsense mutations. For bilaterally affected probands, AS-PCR increased the RB1 mutation detec...
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