Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (March 2015) - Caciotti, Anna
Abstract We estabilished an array of techniques (QF‐PCR, CNV and CGH arrays): for the correct evaluation of MPS IVA patients' allelic composition, in order to achieve a diagnostic alogorithm to be used in the molecular analysis of MPS IVA syndrome: We characterised new identified mutations as a prerequisite to understanding the disease's natural progression in light of he incomming Enzyme Replacement Therapy for MPS IVA syndrome.