Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
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| Description | scientific article published on 31 January 2013 |
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author: Nicola Chiarelli Marina Colombi Marco Ritelli Piergiacomo Calzavara-Pinton |
| Publication date | January 31, 2013 |
| Language | English |
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