“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

ConclusionTogether with the CNVs we previously identified, a total of four pathogenicIDUA CNVs have now been reported.

Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Amir Jahic, Sven G ünther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz Tags: ORIGINAL ARTICLE Source Type: research