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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.
- Published in:
- British Journal of Dermatology, 2013, v. 168, n. 4, p. 904, doi. 10.1111/bjd.12063
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- Publication type:
- Article