Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV (Q33597264)

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English	Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV	scientific article

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV (English)

1 reference

Europe PubMed Central

28 July 2017

Ehlers-Danlos syndrome

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1 reference

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author name string

Richards AJ

1

1 reference

Europe PubMed Central

28 July 2017

Lloyd JC

2

1 reference

Europe PubMed Central

28 July 2017

Ward PN

3

1 reference

Europe PubMed Central

28 July 2017

De Paepe A

4

1 reference

Europe PubMed Central

28 July 2017

Narcisi P

5

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Europe PubMed Central

28 July 2017

Pope FM

6

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Europe PubMed Central

28 July 2017

language of work or name

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publication date

1 July 1991

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Europe PubMed Central

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

28 July 2017

28

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Europe PubMed Central

28 July 2017

7

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Europe PubMed Central

28 July 2017

458-463

1 reference

Europe PubMed Central

28 July 2017

A comprehensive set of sequence analysis programs for the VAX

1 reference

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14 July 2018

Molecular cloning and carboxyl-propeptide analysis of human type III procollagen

1 reference

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Collagen defects in lethal perinatal osteogenesis imperfecta

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

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14 July 2018

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

1 reference

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14 July 2018

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

1 reference

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Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

1 reference

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14 July 2018

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1 reference

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Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism

1 reference

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Inherited disorders of collagen gene structure and expression

1 reference

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Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

1 reference

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Detection of novel genetic markers by mismatch analysis

1 reference

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14 July 2018

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

14 July 2018

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

30 October 2018

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

30 October 2018

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

30 October 2018

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016955

30 October 2018

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

1 reference

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30 October 2018

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1895316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/1895316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1895316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1895316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.28.7.458

1 reference

Europe PubMed Central

28 July 2017

release_e7z2ql5d4zgyhaeykpwbcjek6y

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https://api.fatcat.wiki/v0/release/e7z2ql5d4zgyhaeykpwbcjek6y

24 November 2022

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mapped directly with Wikidata item

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Europe PubMed Central

28 July 2017

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Europe PubMed Central

28 July 2017

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