title: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
authors.affiliation: Regenerative Medicine Unit, CIEMAT-CIBERER, Av. Complutnese, 22, 28040, Madrid, Spain. mariajose.escamez@ciemat.es
authors.forename: María José
authors.initials: MJ
authors.lastname: Escámez
authors.forename: N
authors.initials: N
authors.lastname: Cuadrado-Corrales
authors.forename: M
authors.initials: M
authors.lastname: García
authors.forename: C
authors.initials: C
authors.lastname: Sanchez-Jimeno
authors.forename: N
authors.initials: N
authors.lastname: Illera
authors.forename: M A
authors.initials: MA
authors.lastname: López-Martínez
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 Río
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D013030:Spain
chemical_list: D003062:Codon; D024143:Collagen Type VII