Ehlers-Danlos Syndrome Type IV: A Genetic Disorder in Many Guises (Q72037361)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

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title

Ehlers-Danlos syndrome type IV: a genetic disorder in many guises (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Ehlers-Danlos Syndrome Type IV: A Genetic Disorder in Many Guises (English)

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

31 July 2024

main subject

Ehlers-Danlos syndrome

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P. H. Byers

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7665905

31 July 2024

language of work or name

English

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publication date

1 September 1995

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 October 2019

https://doi.org/10.1111/1523-1747.ep12319926

online access status

open access

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https://api.elsevier.com/content/article/PII:S0022202X15422985?httpAccept=text/xml

31 July 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

https://api.elsevier.com/content/article/PII:S0022202X15422985?httpAccept=text/plain

31 July 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

Journal of Investigative Dermatology

31 July 2024

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

105

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23 October 2019

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

311-313

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7665905%20AND%20SRC:MED&resulttype=core&format=json

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

23 October 2019

cites work

1

1 reference

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Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s)

31 July 2024

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1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

A Heritable Disorder of Connective Tissue

31 July 2024

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1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

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

31 July 2024

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1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12319926

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

31 July 2024

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https://api.crossref.org/works/10.1111/1523-1747.EP12319926

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

31 July 2024

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https://api.crossref.org/works/10.1111/1523-1747.EP12319926

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

31 July 2024

20

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https://api.crossref.org/works/10.1111/1523-1747.EP12319926

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

31 July 2024

24

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Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients

31 July 2024

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Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms

31 July 2024

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