文献
J-GLOBAL ID:201902229021352323
整理番号:19A1267332
Desbuquois異形成症に類似した新生児短下肢異形成症に対する新規遺伝子(FAM20Bコード化グリコサミノグリカン・キシロシルキナーゼ)【JST・京大機械翻訳】
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
著者 (9件):
Kuroda Yukiko
(Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
,
Murakami Hiroaki
(Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
,
Enomoto Yumi
(Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan)
,
Tsurusaki Yoshinori
(Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan)
,
Takahashi Kazumi
(Department of Clinical Genetics, Tokai University Hospital, Isehara, Kanagawa, Japan)
,
Mitsuzuka Kanako
(Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa, Japan)
,
Ishimoto Hitoshi
(Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa, Japan)
,
Nishimura Gen
(Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan)
,
Kurosawa Kenji
(Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
資料名:
Clinical Genetics
(Clinical Genetics)
巻:
95
号:
6
ページ:
713-717
発行年:
2019年
JST資料番号:
E0526B
ISSN:
0009-9163
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)