A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.
Seo
H C
HC
Center for Molecular Genetics, University of California at San Diego, La Jolla 92093-0634, USA.
Yang
M
M
Kim
A H
AH
O'Brien
J S
JS
DiCioccio
R A
RA
Gordon
B A
BA
D001482:Base Composition; D005091:Exons / Q000235:genetics; D005645:Fucosidosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D005644:alpha-L-Fucosidase / Q000235:genetics*
D012333:RNA, Messenger; D005644:alpha-L-Fucosidase