title: A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Kasahara
authors.forename: M
authors.initials: M
authors.lastname: Hino
authors.forename: S
authors.initials: S
authors.lastname: Takahara
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: C
authors.initials: C
authors.lastname: Son
authors.forename: T
authors.initials: T
authors.lastname: Iwakura
authors.forename: N
authors.initials: N
authors.lastname: Matsuoka
authors.forename: A
authors.initials: A
authors.lastname: Yoshimoto
authors.forename: N
authors.initials: N
authors.lastname: Ohgo
authors.forename: R
authors.initials: R
authors.lastname: Kasai
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
mesh_terms: D044466:Asian People / Q000235:genetics*; D004268:DNA-Binding Proteins; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins; D022821:RNA Splice Sites