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Article

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

The Journal of dermatology - 1 Nov 2014

Kitazawa Tomoko, Kawakami Tamihiro, Matsuoka Maya, Kimura Satoko, Soma Yoshinao, Nakano Hajime

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PMID: 25346305
DOI: 10.1111/1346-8138.12648

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Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.PMID 25346305Read ↗

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

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

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

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

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