[PDF][PDF] Ten novel RB1 gene mutations in patients with retinoblastoma
H Abouzeid, FL Munier, F Thonney, DF Schorderet - Mol Vis, 2007 - academia.edu
H Abouzeid, FL Munier, F Thonney, DF Schorderet
Mol Vis, 2007•academia.eduTen novel RB1 gene mutations in patients with retinoblastoma Page 1 Molecular Vision 2007;
13:1740-5 <http://www.molvis.org/molvis/v13/a194/> Received 14 December 2006 | Accepted
17 August 2007 | Published 19 September 2007 RB (OMIM 180200) is the most frequent
intraocular tumor of childhood and is caused by mutations in the RB1 gene. The predisposition
to develop RB is inherited as an autosomal dominant trait but mutations in both alleles are
necessary to cause the disease [1]. Mutations of RB1 gene are highly heterogeneous and …
13:1740-5 <http://www.molvis.org/molvis/v13/a194/> Received 14 December 2006 | Accepted
17 August 2007 | Published 19 September 2007 RB (OMIM 180200) is the most frequent
intraocular tumor of childhood and is caused by mutations in the RB1 gene. The predisposition
to develop RB is inherited as an autosomal dominant trait but mutations in both alleles are
necessary to cause the disease [1]. Mutations of RB1 gene are highly heterogeneous and …
METHODS
Between March 2004 and January 2006, we performed a mutational screening of the RB1 gene in 65 consecutive
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