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A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation

BACKGROUND: Lysosomal β-D-mannosidase is a glycosyl hydrolase that breaks down the glycosidic bonds at the non-reducing end of N-linked glycoproteins. Hence, it is a crucial enzyme in polysaccharide degradation pathway. Mutations in the MANBA gene that codes for lysosomal β-mannosidase, result in im...

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Detalles Bibliográficos
Autores principales: Huynh, Thi, Khan, Javed Mohammed, Ranganathan, Shoba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3333182/
https://www.ncbi.nlm.nih.gov/pubmed/22369051
http://dx.doi.org/10.1186/1471-2164-12-S3-S22