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

Sun, Miao; Kaminsky, Cornelia K.; Deppe, Philip; Ilse, Mai-Britt; Vaz, Frédéric M.; Plecko, Barbara; Lübke, Torben; Randolph, Linda M.

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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DOI

https://doi.org/10.1016/j.gendis.2023.06.003

Autor*in

Sun, Miao; Kaminsky, Cornelia K.; Deppe, Philip^UniBi; Ilse, Mai-Britt^UniBi; Vaz, Frédéric M.; Plecko, Barbara; Lübke, Torben^UniBi ; Randolph, Linda M.

Einrichtung

Fakultät für Chemie > Biochemie III

Erscheinungsjahr

2023

Zeitschriftentitel

Genes & Diseases

Band

11

Ausgabe

3

Art.-Nr.

101025

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;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.

Daten bereitgestellt von European Bioinformatics Institute (EBI)