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- W2041025892 abstract "The Anderson–Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA." @default.
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- W2041025892 date "2012-04-01" @default.
- W2041025892 modified "2023-09-26" @default.
- W2041025892 title "A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson–Fabry disease" @default.
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- W2041025892 doi "https://doi.org/10.1016/j.ymgme.2012.01.012" @default.
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