title: A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.
authors.forename: N
authors.initials: N
authors.lastname: Kaçar
authors.forename: N
authors.initials: N
authors.lastname: Semerci
authors.forename: S
authors.initials: S
authors.lastname: Ergin
authors.forename: M
authors.initials: M
authors.lastname: Pascucci
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: D
authors.initials: D
authors.lastname: Castiglia
mesh_terms: D000293:Adolescent; D001768:Blister / Q000151:congenital / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000151:congenital / Q000235:genetics*; D035781:Siblings; D012873:Skin Diseases, Genetic / Q000175:diagnosis*; D013577:Syndrome; D014421:Turkey
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins