Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisati...
Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases
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Publisher
BioMed Central
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Language
English
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BioMed Central
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Contents
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-phenotype relationship for alpha-mannosido...
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Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases
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TN_cdi_cristin_nora_10037_8656
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_cristin_nora_10037_8656
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-015-0286-x
