Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain (Q67693866)

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17 September 2019

title

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain (English)

1 reference

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17 September 2019

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain (English)

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5 November 2022

main subject

Ehlers-Danlos syndrome

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Ehlers-Danlos syndrome, arthrochalasis type

inferred from title

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1 reference

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5 November 2022

author name string

A. C. Nicholls

1

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J. Oliver

2

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5 November 2022

D. V. Renouf

3

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J. McPheat

4

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A. Palan

5

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F. M. Pope

6

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language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1712342

5 November 2022

publication date

1 June 1991

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full work available at URL

17 September 2019

http://link.springer.com/content/pdf/10.1007/BF00204180.pdf

file format

Portable Document Format

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http://link.springer.com/article/10.1007/BF00204180/fulltext.html

5 November 2022

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http://link.springer.com/content/pdf/10.1007/BF00204180

5 November 2022

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5 November 2022

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17 September 2019

volume

87

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17 September 2019

issue

2

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17 September 2019

page(s)

193-198

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https://scigraph.springernature.com/pub.10.1007/bf00204180

17 September 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Splicing of messenger RNA precursors

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

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

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1 reference

12 December 2020

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

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

Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels

1 reference

12 December 2020

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

1 reference

12 December 2020

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1 reference

12 December 2020

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

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

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1 reference

12 December 2020

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

12 December 2020

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1 reference

12 December 2020

Procollagen peptidase: an enzyme excising the coordination peptides of procollagen

1 reference

12 December 2020

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

12 December 2020

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

12 December 2020

Organization of the human pro-alpha 2(I) collagen gene.

1 reference

12 December 2020

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

1 reference

12 December 2020

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

12 December 2020

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

3

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5 November 2022

Identifiers

DOI

10.1007/BF00204180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1712342%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 September 2019

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