title: Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Remco
authors.initials: R
authors.lastname: Visser
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Ko-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Tohru
authors.initials: T
authors.lastname: Sonoda
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D018797:Cell Cycle Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D004247:DNA