Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 linkage analyses of 50 Finnish SD families that localize the SD disease gene to a refined chromosomal area on 6q14-q15. The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Finland

Share to Haplotypes

Share to Linkage Disequilibrium

Share to Lod Score

Source

Identifiers

PMID: 7557994
DOI: 10.1006/geno.1995.1044

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.PMID 7557994Read ↗

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

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

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

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.Semantic proximity Read ↗

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.Semantic proximity Read ↗

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

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.Semantic proximity Read ↗

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.Semantic proximity Read ↗

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

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.