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A multi-species comparative structural bioinformatics analysis of inherited mutations in α-D-Mannosidase reveals strong genotype-phenotype correlation

BACKGROUND: Lysosomal α-mannosidase is an enzyme that acts to degrade N-linked oligosaccharides and hence plays an important role in mannose metabolism in humans and other mammalian species, especially livestock. Mutations in the gene (MAN2B1) encoding lysosomal α-D-mannosidase cause improper coding...

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Detalles Bibliográficos
Autores principales: Khan, Javed Mohammed, Ranganathan, Shoba
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788387/
https://www.ncbi.nlm.nih.gov/pubmed/19958498
http://dx.doi.org/10.1186/1471-2164-10-S3-S33