Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

doi:10.1038/ng1293-386

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Article

Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

Nature genetics - 1 Dec 1993

Nygaard T G, Wilhelmsen K C, Risch N J, Brown D L, Trugman J M, Gilliam T C, Fahn S, Weeks D E

Abstract excerpt

Dopa-responsive dystonia (DRD) is an autosomal-dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine. Pathological evidence suggests that this may be due to the establishment of a reduced number of dopaminergic nerve terminals in the...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 14
Dihydroxyphenylalanine
Dystonia
Family
Female
Genetic Linkage
Genotype
Humans
Lod Score
Male
Pedigree

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