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 (2024)
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.
;
Randolph, Linda M.Einrichtung
Erscheinungsjahr
2024
Zeitschriftentitel
Genes & Diseases
Band
11
Ausgabe
3
Art.-Nr.
101025
ISSN
23523042
Page URI
https://pub.uni-bielefeld.de/record/2987979
Zitieren
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. 2024;11(3): 101025.
Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., et al. (2024). 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. 2024. “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. (2024). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases 11:101025.
Sun, M., et al., 2024. 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, 2024, : 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 (2024).
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 (2024): 101025.
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