文献
J-GLOBAL ID:201802217165141222
整理番号:18A0324815
標的化エキソーム配列決定は骨形成不全症VIII型を持つ胎児におけるP3H1における新規化合物ヘテロ接合変異を同定する【Powered by NICT】
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII
著者 (15件):
Huang Yanru
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Mei Libin
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Lv Weigang
(Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Li Haoxian
(Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Zhang Rui
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Pan Qian
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Pan Qian
(Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Tan Hu
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Guo Jing
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Luo Xiaomei
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Chen Chen
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Liang Desheng
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Liang Desheng
(Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Wu Lingqian
(State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
,
Wu Lingqian
(Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, PR China)
資料名:
Clinica Chimica Acta
(Clinica Chimica Acta)
巻:
464
ページ:
170-175
発行年:
2017年
JST資料番号:
H0758A
ISSN:
0009-8981
CODEN:
CCATAR
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)