title: Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance.
authors.affiliation: Fundación DEBRA Chile, Santiago, Chile.|Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: I
authors.initials: I
authors.lastname: Fuentes
authors.affiliation: Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: M
authors.initials: M
authors.lastname: Campos
authors.affiliation: Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: G
authors.initials: G
authors.lastname: Repetto
authors.affiliation: Fundación DEBRA Chile, Santiago, Chile.
authors.forename: P
authors.initials: P
authors.lastname: Morandé
authors.affiliation: Fundación DEBRA Chile, Santiago, Chile.|Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: M J
authors.initials: MJ
authors.lastname: Yubero
authors.affiliation: Departamento de Patología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: S
authors.initials: S
authors.lastname: Gonzalez
authors.affiliation: Department of Dermatology, EBHouse Austria, Paracelsus Medical University, Salzburg, 5020, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Klausegger
authors.affiliation: Department of Dermatology, EBHouse Austria, Paracelsus Medical University, Salzburg, 5020, Austria.
authors.forename: P
authors.initials: P
authors.lastname: Schnitzhofer
authors.affiliation: Department of Dermatology, EBHouse Austria, Paracelsus Medical University, Salzburg, 5020, Austria.
authors.forename: G
authors.initials: G
authors.lastname: Pohla-Gubo
authors.affiliation: Department of Dermatology, EBHouse Austria, Paracelsus Medical University, Salzburg, 5020, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Bauer
authors.affiliation: Fundación DEBRA Chile, Santiago, Chile.|Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: F
authors.initials: F
authors.lastname: Palisson
mesh_terms: D000293:Adolescent; D000328:Adult; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002677:Chile / Q000208:ethnology; D016109:Epidermolysis Bullosa, Junctional / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017720:Molecular Epidemiology; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D055815:Young Adult; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin