A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
Seo
H C
HC
Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.
Yang
M
M
Tonlorenzi
R
R
Willems
P J
PJ
Kim
A H
AH
Filocamo
M
M
Gatti
R
R
DiCioccio
R A
RA
O'Brien
J S
JS
D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D005645:Fucosidosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D005644:alpha-L-Fucosidase / Q000235:genetics*
D005644:alpha-L-Fucosidase