(Q24320166)

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Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

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Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis (English)

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Ehlers-Danlos syndrome

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Collagen type III alpha 1 chain

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GOA release 2020-03-11

skin development

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GOA release 2020-03-11

author name string

L T Smith

1

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U Schwarze

2

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J Goldstein

3

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P H Byers

4

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language of work or name

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publication date

March 1997

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Journal of Investigative Dermatology

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108

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3

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241-7

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The in vitro interaction of proteoglycans with type I collagen is modulated by phosphate

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen fibrillogenesis in a three-dimensional fibroblast cell culture system

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Dermal collagen fibrils are hybrids of type I and type III collagen molecules.

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen fibril formation

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Extracellular compartments in tendon morphogenesis: collagen fibril, bundle, and macroaggregate formation

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Type III collagen can be present on banded collagen fibrils regardless of fibril diameter

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of type XIV collagen during the differentiation of fetal bovine skin: immunolabeling with monoclonal antibody is prominent in morphogenetic areas.

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen fibrillogenesis in human skin

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

Interaction Between Collagen Type I and Type III in Conditioning Bundles Organization

1 reference

https://api.crossref.org/works/10.1111%2F1523-1747.EP12286441

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1111/1523-1747.EP12286441

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