β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
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DOI: 10.1101/mcs.a003954
Abstract: β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the… read more here.
Keywords: intragenic inverted; novel homozygous; inverted duplication; duplication ... See more keywords