A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis
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DOI: 10.1136/jclinpath-2018-205074
Abstract: Aims Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of FUCA1 gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family… read more here.
Keywords: novel homozygous; fucosidosis; fuca1 gene; frameshift mutation ... See more keywords