A new heterozygous compound mutation in the CTSA gene in galactosialidosis

Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal β-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Patients present with various clinical manifestations and are classified into three types acco...

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Detalles Bibliográficos
Autores principales: Nakajima, Hideki, Ueno, Miki, Adachi, Kaori, Nanba, Eiji, Narita, Aya, Tsukimoto, Jun, Itoh, Kohji, Kawakami, Atushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486599/
https://www.ncbi.nlm.nih.gov/pubmed/31044084
http://dx.doi.org/10.1038/s41439-019-0054-x

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