文献
J-GLOBAL ID:201902225676523252
整理番号:19A0713689
Turner症候群と共存する重度近位尿細管性アシドーシスと腎外症状を呈するエキソン-イントロン境界領域におけるSLC4A4化合物ヘテロ接合変異:症例報告【JST・京大機械翻訳】
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report
著者 (14件):
Horita Shoko
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Simsek Enver
(Department of Paediatric Endocrinology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey)
,
Simsek Tulay
(Department of Ophthalmology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey)
,
Yildirim Nilgun
(Department of Ophthalmology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey)
,
Ishiura Hiroyuki
(Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan)
,
Nakamura Motonobu
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Satoh Nobuhiko
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Suzuki Atsushi
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Tsukada Hiroyuki
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Mizuno Tomohito
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
,
Seki George
(Yaizu City Hospital, Yaizu, Japan)
,
Tsuji Shoji
(Department of Molecular Neurology, The University of Tokyo Hospital, Tokyo, Japan)
,
Tsuji Shoji
(Institute of Medical Genomics, International University of Health and Welfare, Chiba-ken, Japan)
,
Nangaku Masaomi
(Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan)
資料名:
BMC Medical Genetics (Web)
(BMC Medical Genetics (Web))
巻:
19
号:
1
ページ:
103
発行年:
2018年
JST資料番号:
U7307A
ISSN:
1471-2350
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)