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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

Human genetics - 1 Aug 2009

Garcia Marta, Escamez M J, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas M J, Ayuso C, Del Rio M

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PMID: 19694004

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Related research

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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.PMID 19694004Read ↗

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 ↗

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

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

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

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

Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.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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