Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
Miyake
Noriko
N
Visser
Remco
R
Kinoshita
Akira
A
Yoshiura
Ko-ichiro
K
Niikawa
Norio
N
Kondoh
Tatsuro
T
Matsumoto
Naomichi
N
Harada
Naoki
N
Okamoto
Nobuhiko
N
Sonoda
Tohru
T
Naritomi
Kenji
K
Kaname
Tadashi
T
Chinen
Yasutsugu
Y
Tonoki
Hidefumi
H
Kurosawa
Kenji
K
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*
D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D004247:DNA