Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

doi:10.1006/geno.1995.1044

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Article

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

Genomics - 20 May 1995

Schleutker J, Laine A P, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L

Abstract excerpt

Salla disease (SD), an inherited free sialic acid storage disorder, is caused by impaired transport of free sialic acid across the lysosomal membrane. Clinical characteristics of the disease include severe psychomotor retardation and some neurological abnormalities. We report here detailed linkag...

Topics

Alleles
Chromosome Mapping
Chromosomes, Human, Pair 6
DNA
Female
Finland
Haplotypes
Humans
Linkage Disequilibrium
Lod Score
Lysosomal Storage Diseases
Male
N-Acetylneuraminic Acid
Sialic Acids

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