(Q67521831)

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

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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

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