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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 families allowed us to localize the SD locus to the long arm of chromosome 6. The highest lod score of 8.95 was obtained...

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Identifiers

PMID: 8198127
PMCID: PMC1918202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.PMID 8198127Read ↗

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

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.Semantic proximity Read ↗

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Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.Semantic proximity Read ↗

Free sialic acid storage (Salla) disease in Sweden.Semantic proximity Read ↗

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.Semantic proximity Read ↗

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.Semantic proximity Read ↗

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.Semantic proximity Read ↗

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Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.Semantic proximity Read ↗

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.Semantic proximity Read ↗

Varied mechanisms underlie the free sialic acid storage disorders.Semantic proximity Read ↗

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