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

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

Abstract Background Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease. It is caused by a reduced or absent alpha‐l iduronidase (IDUA) enzyme activity secondary to biallelic loss‐of‐function variants i...

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Bibliographic Details
Main Authors: Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
copy number variations
deletion
duplication
IDUA
MLPA
Online Access:https://doi.org/10.1002/mgg3.615

Internet

https://doi.org/10.1002/mgg3.615

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