Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

@en

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

@en

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

@nl

P1476

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

@en

P2093

Jianzhong Zhang

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Juan Du

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Leqing Cao

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Qianxi Xu

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Yue Yang

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Zhanglei Mu

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P2860

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype.

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

P304

370-371

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P31

scholarly article

P356

10.1111/1346-8138.13964

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P433

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

P478

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

P50

Dandan Mao

P577

2017-07-17T00:00:00Z

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P698

28714197

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P921

Ehlers-Danlos syndrome