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.
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.ymgme.2012.01.012 |
Codice identificativo ISI: | 000302188700027 |
Codice identificativo Scopus: | 2-s2.0-84858708401 |
Handle: | http://hdl.handle.net/11695/7715 |
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. |
Titolo: | A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease |
Autori: | |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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