A single-base deletion mutation in a Turkish patient with fucosidosis.
Seo
H C
HC
Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.
Kunze
J
J
Willems
P J
PJ
Kim
A H
AH
Hanefeld
F
F
O'Brien
J S
JS
D000328:Adult; D002648:Child; D016368:Frameshift Mutation; D005645:Fucosidosis / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D005644:alpha-L-Fucosidase / Q000172:deficiency* / Q000235:genetics*
D005644:alpha-L-Fucosidase