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Article

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

Journal of dermatological science - 1 Jun 2022

Akasaka Eijiro, Nakano Hajime, Sawamura Daisuke

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

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Identifiers

PMID: 35527172
DOI: 10.1016/j.jdermsci.2022.04.009

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.PMID 35527172Read ↗

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Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.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 ↗

A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.Semantic proximity Read ↗

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

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.Semantic proximity Read ↗

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