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.
Zeitschriftenaufsatz
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Autor*in
Sun, Miao;
Kaminsky, Cornelia K.;
Deppe, Philip;
Ilse, Mai-BrittUniBi;
Vaz, Frédéric M.;
Plecko, Barbara;
Lübke, TorbenUniBi ;
Randolph, Linda M.
Einrichtung
Erscheinungsjahr
2023
Zeitschriftentitel
Genes & Diseases
eISSN
2352-3042
Page URI
https://pub.uni-bielefeld.de/record/2981846
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. 2023.
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. 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.
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.
Sun, M., et al., 2023. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases.
M. Sun, et al., “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”, Genes & Diseases, 2023.
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. (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 (2023).
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