文献
J-GLOBAL ID:201802260183960748
整理番号:18A1330619
顕著な小脳萎縮症および新規化合物ヘテロ接合性AARS2遺伝子変異を伴う思春期発症型男性白質脳症:症例報告
An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report
著者 (6件):
DONG Qing
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
,
LONG Ling
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
,
CHANG Yan-yu
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
,
LIN Yan-jun
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
,
LIU Mei
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
,
LU Zheng-qi
(Third Affiliated Hospital of Sun Yat-sen Univ., Guangzhou, CHN)
資料名:
Journal of Human Genetics
(Journal of Human Genetics)
巻:
63
号:
7
ページ:
841-846
発行年:
2018年07月
JST資料番号:
Z0756A
ISSN:
1434-5161
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
イギリス (GBR)
言語:
英語 (EN)