A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

Sun M, Kaminsky CK, Deppe P, Ilse M-B, Vaz FM, Plecko B, Lübke T, Randolph LM (2023)
Genes & Diseases 11(3): 101025.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Sun, Miao; Kaminsky, Cornelia K.; Deppe, PhilipUniBi; Ilse, Mai-BrittUniBi; Vaz, Frédéric M.; Plecko, Barbara; Lübke, TorbenUniBi ; Randolph, Linda M.
Erscheinungsjahr
2023
Zeitschriftentitel
Genes & Diseases
Band
11
Ausgabe
3
Art.-Nr.
101025
eISSN
2352-3042
Page URI
https://pub.uni-bielefeld.de/record/2981846

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Sun M, Kaminsky CK, Deppe P, et al. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases. 2023;11(3): 101025.
Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., et al. (2023). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases, 11(3), 101025. https://doi.org/10.1016/j.gendis.2023.06.003
Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, and Randolph, Linda M. 2023. “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”. Genes & Diseases 11 (3): 101025.
Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., and Randolph, L. M. (2023). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases 11: 101025.
Sun, M., et al., 2023. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases, 11(3): 101025.
M. Sun, et al., “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”, Genes & Diseases, vol. 11, 2023, : 101025.
Sun, M., Kaminsky, C.K., Deppe, P., Ilse, M.-B., Vaz, F.M., Plecko, B., Lübke, T., Randolph, L.M.: A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases. 11, : 101025 (2023).
Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, and Randolph, Linda M. “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”. Genes & Diseases 11.3 (2023): 101025.
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