title: A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa.
authors.forename: N
authors.initials: N
authors.lastname: Cuadrado-Corrales
authors.forename: C
authors.initials: C
authors.lastname: Sánchez-Jimeno
authors.forename: M
authors.initials: M
authors.lastname: García
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: R
authors.initials: R
authors.lastname: De Lucas
authors.forename: J L
authors.initials: JL
authors.lastname: Vicario
authors.forename: C J
authors.initials: CJ
authors.lastname: Conti
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: M J
authors.initials: MJ
authors.lastname: Escamez
authors.forename: M
authors.initials: M
authors.lastname: Del Rio
mesh_terms: D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology / Q000601:surgery; D018389:Codon, Nonsense; D024143:Collagen Type VII / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D012008:Recurrence; D012720:Severity of Illness Index; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: C569053:COL7A1 protein, human; D018389:Codon, Nonsense; D024143:Collagen Type VII