title: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
authors.affiliation: Regenerative Medicine Unit, CIEMAT-CIBERER, Madrid, Spain. marta.garcia@ciemat.es
authors.forename: Marta
authors.initials: M
authors.lastname: Garcia
authors.forename: M J
authors.initials: MJ
authors.lastname: Escamez
authors.forename: N
authors.initials: N
authors.lastname: Cuadrado-Corrales
authors.forename: A
authors.initials: A
authors.lastname: Carrillo
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Del Rio
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D013030:Spain
chemical_list: D003062:Codon; D024143:Collagen Type VII; D009711:Nucleotides