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Article

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

The Journal of dermatology - 1 Oct 2014

Yoshihara Nagisa, Nakano Hajime, Sawamura Daisuke, Ikeda Shigaku

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Mutation, Missense
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25227401
DOI: 10.1111/1346-8138.12621

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Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.PMID 25227401Read ↗

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.Semantic proximity Read ↗

Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.Semantic proximity Read ↗

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.Semantic proximity Read ↗

A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.Semantic proximity Read ↗

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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