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Article

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.

The British journal of dermatology - 1 Jun 2005

Jiang W, Sun Y, Li S, Chen X X, Bu D F, Zhu X J

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Fluorescent Antibody Technique, Indirect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Foot Deformities, Congenital

Share to Genes, Recessive

Share to Mutation, Missense

Source

Identifiers

PMID: 15949010
DOI: 10.1111/j.1365-2133.2005.06638.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.PMID 15949010Read ↗

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.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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Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

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

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

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

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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 ↗

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