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Results: 3
CHARACTERIZATION OF 2 ARYLSULFATASE-A MISSENSE MUTATIONS D335V AND T274M CAUSING LATE INFANTILE METACHROMATIC LEUKODYSTROPHY
Authors: HESS B KAFERT S HEINISCH U WENGER DA ZLOTOGORA J GIESELMANN V
Citation: B. Hess et al., CHARACTERIZATION OF 2 ARYLSULFATASE-A MISSENSE MUTATIONS D335V AND T274M CAUSING LATE INFANTILE METACHROMATIC LEUKODYSTROPHY, Human mutation, 7(4), 1996, pp. 311-317
A MISSENSE MUTATION P136L IN THE ARYLSULFATASE-A GENE CAUSES INSTABILITY AND LOSS OF ACTIVITY OF THE MUTANT ENZYME
Authors: KAFERT S HEINISCH U ZLOTOGORA J GIESELMANN V
Citation: S. Kafert et al., A MISSENSE MUTATION P136L IN THE ARYLSULFATASE-A GENE CAUSES INSTABILITY AND LOSS OF ACTIVITY OF THE MUTANT ENZYME, Human genetics, 95(2), 1995, pp. 201-204
MULTIPLE MUTATIONS ARE RESPONSIBLE FOR THE HIGH-FREQUENCY OF METACHROMATIC LEUKODYSTROPHY IN A SMALL GEOGRAPHIC AREA
Authors: HEINISCH U ZLOTOGORA J KAFERT S GIESELMANN V
Citation: U. Heinisch et al., MULTIPLE MUTATIONS ARE RESPONSIBLE FOR THE HIGH-FREQUENCY OF METACHROMATIC LEUKODYSTROPHY IN A SMALL GEOGRAPHIC AREA, American journal of human genetics, 56(1), 1995, pp. 51-57
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