title: Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
authors.forename: Y
authors.initials: Y
authors.lastname: Takizawa
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: K
authors.initials: K
authors.lastname: Suzumori
authors.forename: H
authors.initials: H
authors.lastname: Kakinuma
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000453:epidemiology / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007797:Laminin / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis
chemical_list: D018389:Codon, Nonsense; D007797:Laminin