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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

Authors :
Quinzani, S.
Ritelli, M.
Nicola Chiarelli
Dordoni, C.
Venturini, M.
Calzavara-Pinton, P.
Colombi, M.
Source :
Università degli Studi di Brescia-IRIS
Publication Year :
2013

Subjects

Subjects :
COL7A1 gene
COL7A1 promoter mutation
dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa
COL7A1

Details

Language :
English
Database :
OpenAIRE
Journal :
Università degli Studi di Brescia-IRIS
Accession number :
edsair.dedup.wf.001..beee03fc9be0444d6b1dd08bab5b4850

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