(Q35198203)

English

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.

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

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. (English)

1 reference

Europe PubMed Central

7 August 2017

Ehlers-Danlos syndrome

0 references

author name string

S Kontusaari

1

1 reference

Europe PubMed Central

7 August 2017

G Tromp

2

1 reference

Europe PubMed Central

7 August 2017

H Kuivaniemi

3

1 reference

Europe PubMed Central

7 August 2017

R L Ladda

4

1 reference

Europe PubMed Central

7 August 2017

D J Prockop

5

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 July 1990

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

47

1 reference

Europe PubMed Central

7 August 2017

112-120

1 reference

Europe PubMed Central

7 August 2017

1

1 reference

Europe PubMed Central

7 August 2017

Infrarenal abdominal aortic aneurysm: factors influencing survival after operation performed over a 25-year period

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

A simple and very efficient method for generating cDNA libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

UCLA conference. Biochemistry of collagen in diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Are familial abdominal aortic aneurysms different?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Detection of single base changes in nucleic acids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 July 2018

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 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=1683756

28 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683756

28 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=1683756

26 September 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=1683756

24 October 2018

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2349939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/2349939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for abdominal aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/2349939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increasing numbers of patients dying because of abdominal aortic aneurysm. Increased diagnostic sharpness is needed

1 reference

https://pubmed.ncbi.nlm.nih.gov/2349939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/2349939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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