Intrafamilial variability in fucosidosis.
Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or "modifying genes" different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.
Willems
P J
PJ
Department of Neurosciences, University of California, San Diego.
Garcia
C A
CA
De Smedt
M C
MC
Martin-Jimenez
R
R
Darby
J K
JK
Duenas
D A
DA
Granado-Villar
D
D
O'Brien
J S
JS
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005645:Fucosidosis / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D005644:alpha-L-Fucosidase / Q000235:genetics*
D005644:alpha-L-Fucosidase