文献
J-GLOBAL ID:201302253157571982
整理番号:13A1147384
それはグリコサミノグリカンリンカー領域酵素をコード化するB3GALT6における変異は,骨格および結合組織障害のスペクトルを引き起こす
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
著者 (31件):
NAKAJIMA Masahiro
(RIKEN, Tokyo, JPN)
,
IIDA Aritoshi
(RIKEN, Tokyo, JPN)
,
IKEGAWA Shiro
(RIKEN, Tokyo, JPN)
,
MIZUMOTO Shuji
(Hokkaido Univ., Sapporo, JPN)
,
KOGAWA Ryo
(Hokkaido Univ., Sapporo, JPN)
,
SUGAHARA Kazuyuki
(Hokkaido Univ., Sapporo, JPN)
,
MIYAKE Noriko
(Yokohama City Univ., Yokohama, JPN)
,
TSURUSAKI Yoshinori
(Yokohama City Univ., Yokohama, JPN)
,
SAITSU Hirotomo
(Yokohama City Univ., Yokohama, JPN)
,
MATSUMOTO Naomichi
(Yokohama City Univ., Yokohama, JPN)
,
ITO Hironori
(Central Hospital, Kasugai, JPN)
,
KITOH Hiroshi
(Nagoya Univ., Nagoya, JPN)
,
HIRAYAMA Aya
(Akita Prefectural Center on Dev. and Disability, Akita, JPN)
,
MITSUBUCHI Hiroshi
(Kumamoto Univ. Hospital, Kumamoto, JPN)
,
MIYAZAKI Osamu
(National Center for Child Health and Dev., Tokyo, JPN)
,
KOSAKI Rika
(National Center for Child Health and Dev., Tokyo, JPN)
,
HORIKAWA Reiko
(National Center for Child Health and Dev., Tokyo, JPN)
,
LAI Angeline
(KK Women’s and Children’s Hospital, Singapore, SGP)
,
MENDOZA-LONDONO Roberto
(Univ. Toronto, ON, CAN)
,
DUPUIS Lucie
(Univ. Toronto, ON, CAN)
,
CHITAYAT David
(Univ. Toronto, ON, CAN)
,
HOWARD Andrew
(Univ. Toronto, ON, CAN)
,
LEAL Gabriela F.
(Fernando Figueira Integral Medicine Inst. (IMIP), Recife, BRA)
,
CAVALCANTI Denise
(State Univ. Campinas (UNICAMP), SP, BRA)
,
WATANABE Shigehiko
(Saitama Children’s Medical Center, Saitama, JPN)
,
OHASHI Hirofumi
(Saitama Children’s Medical Center, Saitama, JPN)
,
LAUSCH Ekkehart
(Univ. Freiburg, Freiburg, DEU)
,
UNGER Sheila
(Univ. Lausanne, Lausanne, CHE)
,
BONAFE Luisa
(Univ. Lausanne, Lausanne, CHE)
,
SUPERTI-FURGA Andrea
(Univ. Lausanne, Lausanne, CHE)
,
NISHIMURA Gen
(Tokyo Metropolitan Children’s Medical Center, Fuchu, JPN)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
92
号:
6
ページ:
927-934
発行年:
2013年
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)