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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



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



British Journal of Dermatology 168(4): 904-906




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Accession: 052269103

Download citation: RISBibTeXText

PMID: 23013315

DOI: 10.1111/bjd.12063


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