(Q48192951)

9 February 2018

title

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV (English)

1 reference

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chromosomal deletion syndrome

19 September 2022

main subject

Ehlers-Danlos syndrome

0 references

1 reference

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19 September 2022

4

P. N. Ward

1 reference

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19 September 2022

author name string

A. J. Richards

1

1 reference

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19 September 2022

J. C. Lloyd

2

1 reference

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19 September 2022

P. Narcisi

3

1 reference

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19 September 2022

A. C. Nicholls

5

1 reference

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19 September 2022

A. De Paepe

6

1 reference

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19 September 2022

F. M. Pope

7

1 reference

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19 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1370809

19 September 2022

publication date

1 January 1992

1 reference

9 February 2018

published in

Human Genetics

1 reference

9 February 2018

volume

88

1 reference

9 February 2018

page(s)

325-330

1 reference

9 February 2018

issue

3

1 reference

9 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00197268

exact match

0 references

cites work

The structure of the chicken alpha 2 collagen gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

1 reference

12 December 2020

The structure and evolution of the human beta-globin gene family

1 reference

12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

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

12 December 2020

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

12 December 2020

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1 reference

12 December 2020

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

12 December 2020

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

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

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

1 reference

12 December 2020

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

12 December 2020

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

12 December 2020

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

12 December 2020

Detection of novel genetic markers by mismatch analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Purification of human procollagen type III N-proteinase from placenta and preparation of antiserum

1 reference

12 December 2020

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

12 December 2020

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

1 reference

12 December 2020

A comprehensive set of sequence analysis programs for the VAX

1 reference

12 December 2020

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

12 December 2020

Mutations that alter the primary structure of type I procollagen have long-range effects on its cleavage by procollagen N-proteinase

1 reference

12 December 2020

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

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1007/BF00197268

1 reference

9 February 2018

1 reference

9 February 2018