(Q33597913)

28 July 2017

title

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele (English)

1 reference

28 July 2017

main subject

Ehlers-Danlos syndrome

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author name string

Sillence DO

1

1 reference

28 July 2017

Chiodo AA

2

1 reference

28 July 2017

Campbell PE

3

1 reference

28 July 2017

Cole WG

4

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28 July 2017

language of work or name

English

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publication date

1 December 1991

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

28

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28 July 2017

issue

12

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28 July 2017

page(s)

840-845

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Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

Platelet-reactive sites in collagen. Collagens I and III possess different aggregatory sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

Type III collagen can be present on banded collagen fibrils regardless of fibril diameter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017161

Low levels of serum type III procollagen aminoterminal propeptide confirmed type III collagen deficiency in patients without typical clinical symptoms of Ehlers-Danlos type IV

30 October 2018

1 reference

12 December 2020

Spontaneous arterial perforation: the Ehlers-Danlos specter

1 reference

12 December 2020

Spontaneous carotid-cavernous fistula and multiple arterial dissections in type IV Ehlers-Danlos syndrome. Case report

1 reference

12 December 2020

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

1 reference

12 December 2020

Type III collagen deficiency with normal phenotype

1 reference

12 December 2020

Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.12.840

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28 July 2017

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28 July 2017

1 reference