The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6 (Q24673029)

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

Statements

instance of

scholarly article

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title

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

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main subject

Salla disease

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based on heuristic

inferred from title

author

Jean Weissenbach

series ordinal

7

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author name string

L Haataja

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1

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J Schleutker

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2

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A P Laine

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3

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M Renlund

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4

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M L Savontaus

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5

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C Dib

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6

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L Peltonen

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8

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P Aula

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9

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language of work or name

English

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publication date

June 1994

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published in

American Journal of Human Genetics

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volume

54

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issue

6

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page(s)

1042-9

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cites work

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

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PubMed Central

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7 April 2017

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

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7 April 2017

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

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7 April 2017

Strategies for multilocus linkage analysis in humans

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7 April 2017

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)

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7 April 2017

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

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PubMed Central

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7 April 2017

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

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7 April 2017

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease

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PubMed Central

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7 April 2017

"Salla disease": a new lysosomal storage disorder

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PubMed Central

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7 April 2017

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers

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PubMed Central

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28 September 2017

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

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PubMed Central

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28 September 2017

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

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28 September 2017

Blot hybridisation analysis of genomic DNA

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28 September 2017

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation

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28 September 2017

Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes

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PubMed Central

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28 September 2017

A second-generation linkage map of the human genome

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

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28 September 2017

Exclusion mapping.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

retrieved

30 May 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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PubMed Central

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28 July 2018

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues

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PubMed Central

reference URL

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28 November 2018

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human mitochondrial DNA types in Finland

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and physical map of 11 short tandem repeat polymorphisms on human chromosome 6

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid metabolism in sialuria fibroblasts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8198127

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1918202

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PubMed publication ID

8198127

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