β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA

β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the clinical presentation is heterogeneous, common symptoms inc...

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Detalles Bibliográficos
Autores principales: Blomqvist, Maria, Smeland, Marie Falkenberg, Lindgren, Julia, Sikora, Per, Riise Stensland, Hilde Monica Frostad, Asin-Cayuela, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549551/
https://www.ncbi.nlm.nih.gov/pubmed/30886116
http://dx.doi.org/10.1101/mcs.a003954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549551/
https://www.ncbi.nlm.nih.gov/pubmed/30886116
http://dx.doi.org/10.1101/mcs.a003954

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