A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis (Q67521831)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 January 1992

Language	Label	Description	Also known as
English	A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis	scientific article published on 01 January 1992

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Ehlers-Danlos syndrome

1 reference

based on heuristic

inferred from title

author name string

P. H. Johnson

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357232

17 September 2022

A. J. Richards

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357232

17 September 2022

F. M. Pope

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357232

17 September 2022

D. A. Hopkinson

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357232

17 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1357232

17 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

426-430

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357232%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

https://scigraph.springernature.com/pub.10.1007/bf02435995

0 references

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://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child

1 reference

https://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1357232

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/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1357232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q67521831&oldid=1889722940"