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Article

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

The Journal of dermatology - 1 Mar 2018

Mao Dandan, Mu Zhanglei, Yang Yue, Cao Leqing, Xu Qianxi, Du Juan, Zhang Jianzhong

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Identifiers

PMID: 28714197
DOI: 10.1111/1346-8138.13964

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Related research

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Research trail→

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.PMID 28714197Read ↗

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.Semantic proximity Read ↗

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.Semantic proximity Read ↗

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.Semantic proximity Read ↗

Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.Semantic proximity Read ↗

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.Semantic proximity Read ↗

A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.Semantic proximity Read ↗

Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.Semantic proximity Read ↗

COL4A1 gene mutation--beyond a vascular syndrome.Semantic proximity Read ↗

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Semantic proximity Read ↗

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.Semantic proximity Read ↗

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.Semantic proximity Read ↗

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

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