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Beta-mannosidosis
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publication
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
2020 |
Second Faculty of Medicine
publication
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis
1998 |
Second Faculty of Medicine