| Literature DB >> 22341397 |
Nicola Marziliano1, Nadia Sapere, Francesco Orsini, Valentina Motta, Silvio Veronese, Marcello Gambacorta, Piera Angelica Merlini, Mariano Intrieri.
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. Copyright ÂEntities:
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Year: 2012 PMID： 22341397 DOI： 10.1016/j.ymgme.2012.01.012
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797