文献
J-GLOBAL ID:201702249571997730
整理番号:17A0578891
日本人患者のエクソームファーストアプローチで確認されたAGA遺伝子の新規ホモ接合変異に起因するアスパルチルグルコサミン尿症
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
著者 (9件):
Yamamoto Toshiyuki
(Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Yamamoto Toshiyuki
(Institute for Integrated Medical Sciences, Tokyo Women’s Medical University, Tokyo, Japan)
,
Shimojima Keiko
(Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Shimojima Keiko
(Institute for Integrated Medical Sciences, Tokyo Women’s Medical University, Tokyo, Japan)
,
Matsufuji Mayumi
(Department of Pediatrics, Minami Kyushu National Hospital, Aira, Japan)
,
Mashima Ryuichi
(Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan)
,
Sakai Eri
(Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan)
,
Okuyama Torayuki
(Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan)
,
Okuyama Torayuki
(Center for Lysosomal Storage Diseases, National Center for Child Health and Development, Tokyo, Japan)
資料名:
Brain & Development
(Brain & Development)
巻:
39
号:
5
ページ:
422-425
発行年:
2017年05月
JST資料番号:
W0814A
ISSN:
0387-7604
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)