Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.

doi:10.1007/BF00710424

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Article

Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.

Journal of inherited metabolic disease - 1 Jan 1995

Pastor-Soler N M, Schertz E M, Rafi M A, de Gala G, Wenger D A

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder resulting from the inability to metabolize sulphatide, an important component of myelin. Although there is significant clinical variability between patients, most have the late-infantile form. It is one of the most common lysos...

Topics

Alaska
Arylsulfatases
Base Sequence
DNA
Female
Humans
Introns
Inuit
Leukodystrophy, Metachromatic
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree

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