Article
Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test.
Ophthalmic research - 1 Jan 2000
Dalamon V, Surace E, Borelina D, Ziembar M, Esperante S, Francipane L, Davila M, Parma D, Szijan I
Abstract excerpt
The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene (RB1) and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13-21....
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