ACOL7A1variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

The Genetics of Skin Fragility

(2014) Cristina Has et al.   Annual Review of Genomics and Human Genetics

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity

(2014) Teresa Odorisio et al.   HUMAN MOLECULAR GENETICS

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

(2009) J.S. Kern et al.   BRITISH JOURNAL OF DERMATOLOGY

Dystrophic Epidermolysis Bullosa: Pathogenesis and Clinical Features

(2009) Leena Bruckner-Tuderman   DERMATOLOGIC CLINICS

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

(2007) Matthias Titeux et al.   HUMAN MUTATION