A neomycin-phosphotransferase I cassette was inserted in exon 1. Analysis of liver-derived and brain-derived lysosome-enriched fractions indicated total absence of alpha-L-fucosidase activity. (J:235359)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count