Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

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Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

P2860

Q48217824-7097D90B-CE3B-4DBA-A57A-08C03758570C

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Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

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http://www.wikidata.org/entity/Q46556412

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@en

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@nl

type

Item

label

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@en

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@nl

prefLabel

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@en

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@nl

P1476

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

@en

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Atsushi Watanabe

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Banyar Than Naing

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Eisei Kondo

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Kazunobu Ouchi

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Kazushige Kadota

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Mika Inoue

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Mitsuo Masuno

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Shinsuke Ninomiya

http://www.w3.org/2001/XMLSchema#string

Takashi Shimada

http://www.w3.org/2001/XMLSchema#string

Tatsuya Kotaka

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P2860

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

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience.

Vascular type of Ehlers-Danlos syndrome.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

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207-210

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scholarly article

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10.1111/J.1741-4520.2011.00353.X

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2012-12-01T00:00:00Z

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233771430

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P698

23181496

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P921

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

about

P2860

P2860

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.

description

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P1433

P1476

P2093

P2860

P304

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P356

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P698

P921

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P2093

P2860

P304

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P478

P577

P5875

P698

P921