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Article

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

Journal of dermatological science - 1 Nov 2012

Makino Eiichi, Nakano Hajime, Sawamura Daisuke, Fujimoto Wataru

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Identifiers

PMID: 22854212
DOI: 10.1016/j.jdermsci.2012.07.003

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Research trail→

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Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.PMID 22854212Read ↗

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

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

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

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

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

Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation.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 ↗

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.Semantic proximity Read ↗

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