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Intrafamilial variability in fucosidosis
Author(s) -
Willems P. J.,
Garcia C. A.,
Smedt M. C. H.,
MartinJimenez R.,
Darby J. K.,
Duenas D. A.,
GranadoVillar D.,
O'Brien J. S.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02608.x
Subject(s) - phenotype , gene , genetics , biology , medicine
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.