Descriptor: "COL7A1 promoter mutation" - Searchworks@Jio Institute Digital Library Search Results

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

Author: Quinzani, S., Ritelli, M., Nicola Chiarelli, Dordoni, C., Venturini, M., Calzavara-Pinton, P., and Colombi, M.
Subjects: COL7A1 gene, COL7A1 promoter mutation, dystrophic epidermolysis bullosa, Dystrophic epidermolysis bullosa, COL7A1
Published: 2013

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