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

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 in the ID...

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Detalles Bibliográficos
Autores principales: Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732313/
https://www.ncbi.nlm.nih.gov/pubmed/31319022
http://dx.doi.org/10.1002/mgg3.615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732313/
https://www.ncbi.nlm.nih.gov/pubmed/31319022
http://dx.doi.org/10.1002/mgg3.615

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