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Retinoblastoma: Mutational mosaicism or host resistance?

✍ Scribed by Matsunaga, Ei ;Herrmann, Jürgen ;Opitz, John M.

Book ID
102699115
Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
823 KB
Volume
8
Category
Article
ISSN
0148-7299

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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 detectio