“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
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Ø. Braaten | C. Beetz | F. Wijburg | K. Tylee | N. Muschol | Sven Günther | G. Kuiper | A. Jahic | Barbro Fossøy Stadheim | Hanne Kjensli Hyldebrandt