(Q53225417)

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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

scientific article published on 5 April 2015

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scholarly article

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4 March 2020

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene (English)

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4 March 2020

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4 March 2020

Rebecca C Pollitt

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4 March 2020

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Neeti Ghali

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4 March 2020

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Natasha S Stembridge

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4 March 2020

Anthony M Vandersteen

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Philip Sawle

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Mandy Nesbitt

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4 March 2020

Simon Holden

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Frances Elmslie

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Alex Henderson

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F Michael Pope

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5 April 2015

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4 March 2020

American Journal of Medical Genetics

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167A

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1763-1772

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4 March 2020

Structural basis of fibrillar collagen trimerization and related genetic disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Natural variation in four human collagen genes across an ethnically diverse population

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37081

21 January 2018

Identifiers

10.1002/AJMG.A.37081

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4 March 2020

1 reference

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4 March 2020

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