The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

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Article

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

American journal of human genetics - 1 Jun 1994

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

Abstract excerpt

Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder characterized by impaired transport of free sialic acid across the lysosomal membrane and severe psychomotor retardation. Random linkage analysis of a sample of 27 Finnish fami...

Topics

Alleles
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Female
Finland
Genetic Markers
Humans
Linkage Disequilibrium
Lysosomal Storage Diseases
Male
Parents
Pedigree
Polymorphism, Genetic
Sialic Acids

Source

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Identifiers

PMID: 8198127
PMCID: PMC1918202

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8198127-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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