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2012•JIMD ReportsOpen access

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance

Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi, Rossella Parini, Marina Caserta, G Chibbaro, Serena Gasperini, Elena Procopio, Maria Alice Donati, Renzo Guerrini, Amelia Morrone

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Key concepts: Multiplex ligation-dependent probe amplification, Aldolase B, Exon, Biology, Genotyping, Multiplex polymerase chain reaction, Genetics, Allele

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Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance — Research Paper | ScholarLens