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Article

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

Clinical and experimental dermatology - 1 Aug 2018

Saeidian A H, Youssefian L, Rosales-Solis G M, Vahidnezhad H, Atanasova V S, Uitto J, South A P, Salas-Alanis J C

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Share to Blister
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Share to Collagen Type VII
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa Dystrophica

Share to Genes, Recessive

Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 29427316
DOI: 10.1111/ced.13400

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First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.PMID 29427316Read ↗

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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 ↗

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

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

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

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

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

Novel and recurrent COL7A1 mutation in a Polish population.Semantic proximity Read ↗

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