Fabry pedigree analysis: A successful program for targeted genetic approach

ConclusionThe targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.

Source: Molecular Genetics & Genomic Medicine - June 5, 2019 Category: Genetics & Stem Cells Authors: Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci Tags: ORIGINAL ARTICLE Source Type: research