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Article

Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.

The British journal of dermatology - 1 Apr 2013

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Calzavara-Pinton P, Colombi M

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Promoter Regions, Genetic

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Identifiers

PMID: 23013315
DOI: 10.1111/bjd.12063

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Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.PMID 23013315Read ↗

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