Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisati...
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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.
To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were includ...
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Full title
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4465300
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4465300
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-015-0286-x
