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Article

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

The Journal of dermatology - 1 Sept 2021

Kuriyama Yuko, Shimizu Akira, Kosaka Keiji, Yasuda Masahito, Shinkuma Satoru, Ishikawa Osamu, Motegi Sei-Ichiro

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Share to Collagen Type VII
Share to Epidermis
Share to Epidermolysis Bullosa Dystrophica

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34145917
DOI: 10.1111/1346-8138.16029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Novel mutation in COL7A1 in recessive dystrophic epidermolysis bullosa successfully treated with cultured epidermal autograft transplantation.PMID 34145917Read ↗

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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 ↗

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.Semantic proximity Read ↗

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

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