Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

BACKGROUND: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. METHODS: To study the genotype-p...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Borgwardt, Line, Stensland, Hilde Monica Frostad Riise, Olsen, Klaus Juul, Wibrand, Flemming, Klenow, Helle Bagterp, Beck, Michael, Amraoui, Yasmina, Arash, Laila, Fogh, Jens, Nilssen, Øivind, Dali, Christine I, Lund, Allan Meldgaard
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4465300/
https://ncbi.nlm.nih.gov/pubmed/26048034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0286-x
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