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Article

Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.

The Journal of dermatology - 1 Mar 2015

Kasai Hiroko, Sasaki Takashi, Matsuzaki Hitomi, Yoshioka Toshiro, Nagao Keisuke, Amagai Masayuki, Ishiko Akira, Kubo Akiharu

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Share to Autoantigens
Share to Collagen Type XVII
Share to Epidermolysis Bullosa, Junctional
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25573436
DOI: 10.1111/1346-8138.12755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.PMID 25573436Read ↗

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

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.Semantic proximity Read ↗

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

Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation.Semantic proximity Read ↗

Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene.Semantic proximity Read ↗

Non-Herlitz junctional epidermolysis bullosa in a Native American newborn.Semantic proximity Read ↗

Novel mutation in COL7A1 in recessive dystrophic epidermolysis bullosa successfully treated with cultured epidermal autograft transplantation.Semantic proximity Read ↗

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.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 novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.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 ↗

Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.Semantic proximity Read ↗

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