Article
Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Biochimica et biophysica acta - 20 Oct 1993
Yang M, Allen H, DiCioccio R A
Abstract excerpt
Fucosidosis is an autosomal recessive lysosomal storage disease resulting from absence of alpha-L-fucosidase activity. Lymphoid cell lines from two siblings with fucosidosis and a healthy individual (control) had alpha-L-fucosidase mRNA of normal size (2.3 kb) but the level of alpha-L-fucosidase mRNA in the patients' cells was reduced. cDNA was prepared and amplified from alpha-L-fucosidase mRNA of lymphoid cells...
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