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Article

Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.

The Journal of dermatology - 1 Apr 2014

Jeon In Kyung, Kim Song-Ee, Kim Soo-Chan

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Share to Codon, Nonsense
Share to Collagen Type VII
Share to DNA Mutational Analysis
Share to Epidermolysis Bullosa Dystrophica

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Heterozygote

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Source

Identifiers

PMID: 24533879
DOI: 10.1111/1346-8138.12356

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.PMID 24533879Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of 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 ↗

Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

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

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

A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.Semantic proximity Read ↗

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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