Associated Papers
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA.
Katz ML et al.
Gene, 2024
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.
Gytz H et al.
The Febs Journal, 2019
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Yu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.
Huynh T et al.
Bmc Genomics, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Sabourdy F et al.
Bmc Medical Genetics, 2009
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Riise Stensland HMF et al.
Molecular Genetics and Metabolism, 2008
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