A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.
Kobayashi
H
H
Kasahara
M
M
Hino
M
M
Takahara
S
S
Ikeda
K
K
Son
C
C
Iwakura
T
T
Matsuoka
N
N
Yoshimoto
A
A
Ohgo
N
N
Kasai
R
R
Ishihara
T
T
Ogawa
Y
Y
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
D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins; D022821:RNA Splice Sites