TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
Kinoshita
Akira
A
Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.|Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
Fukumaki
Yasuyuki
Y
Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Shirahama
Shuya
S
Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.
Miyahara
Akira
A
Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.
Nishimura
Gen
G
Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
Haga
Nobuhiko
N
Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
Namba
Atsushi
A
Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan.
Ueda
Hitoshi
H
Division of Pediatric Neurology, Osaka Medical Center and Research for Maternal and Child Health, Osaka, Japan.
Hayashi
Hiromi
H
Department of Community and General Medicine, Sapporo Medical University, Sapporo, Japan.
Ikegawa
Shiro
S
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan.
Seidel
Joerg
J
Department of Pediatrics and Clinical Genetics, Friedrich-Schiller University of Jena, Jena, Germany.
Niikawa
Norio
N
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
Yoshiura
Koh-Ichiro
KI
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.|CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1