A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.
Fleming
C J
CJ
Department of Dermatology, Glasgow Royal Infirmary, UK.
Sinclair
D U
DU
White
E J
EJ
Winchester
B
B
Whiteford
M L
ML
Connor
J M
JM
D005091:Exons / Q000235:genetics*; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008136:Longevity; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D005644:alpha-L-Fucosidase / Q000235:genetics*
D005644:alpha-L-Fucosidase