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Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population
期刊论文
UROLITHIASIS, 2019, 卷号: 47, 期号: 3
作者:
Li, Kangjian
;
Luo, Yuhui
;
Mo, Yin
;
Shen, Jihong
;
Liu, Xiaodong
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2019/12/04
Chinese Bai population
Vitamin D receptor (VDR)
Single nucleotide polymorphism (SNP)
Idiopathic hypocitraturia (IH)
Sanger sequencing
Detection of H3K27M mutation in cases of brain stem subependymoma
期刊论文
HUMAN PATHOLOGY, 2019, 卷号: 84
作者:
Yao, Kun
;
Duan, Zejun
;
Wang, Yin
;
Zhang, Mingshan
;
Fan, Tao
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
H3K27M mutation
Subependymoma
Brain stem neoplasm
Sanger sequencing
Parallel principal components algorithm for OMA following Sanger neural network
期刊论文
INTERNATIONAL JOURNAL OF APPLIED ELECTROMAGNETICS AND MECHANICS, 2019, 卷号: 59, 页码: 1401-1412
作者:
Wang, Cheng
;
Huang, Haiyang
;
Zhang, Tianshu
;
Chen, Yewang
;
Zhang, Yiwen
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/11/19
Operational modal analysis
Sanger neural network
measurement noise
generalized Hebbian rule
principal component analysis
parallel
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population
期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 11, 页码: 1024-1026
作者:
Wang, Zhe
;
Li, Lulu
;
Sun, Lele
;
Mi, Zihao
;
Fu, Fanghui
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2019/12/11
Hailey-Hailey disease
mutation analysis
novel mutations
Sanger
sequencing
A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 7, 页码: 495-500
作者:
Xiao, Ying
;
Liu, Xiangqin
;
Yang, Chen
;
Liu, Liping
;
Guo, Xiaoxin
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2019/12/11
PAX6 gene
congenital aniridia
heterozygous mutation
Sanger sequencing
A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease
期刊论文
Journal of Cellular Biochemistry, 2019, 卷号: Vol.120 No.3, 页码: 3630-3636
作者:
Heng Xiao
;
Xiangjun Huang
;
Hongbo Xu
;
Xiang Chen
;
Wei Xiong
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/13
ATP2C1
gene
Hailey‐Hailey
disease
(HHD)
mutation
analysis
Sanger
sequencing
splice‐site
mutation
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease.
期刊论文
Journal of cellular biochemistry, 2019, 卷号: Vol.120 No.3, 页码: 3630-3636
作者:
Heng Xiao
;
Xiangjun Huang
;
Hongbo Xu
;
Xiang Chen
;
Wei Xiong
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/13
ATP2C1
gene
Hailey‐Hailey
disease
(HHD)
Sanger
sequencing
mutation
analysis
splice‐site
mutation
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
期刊论文
Metabolic brain disease, 2019
作者:
Yousheng Yan
;
Chuan Zhang
;
Xiaohua Jin
;
Qinhua Zhang
;
Lei Zheng
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/17
Gap-PCR
Gene
variant
MLPA
Phenylalanine
hydroxylase
Phenylketonuria
Sanger
sequencing
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
期刊论文
2019, 卷号: 34, 期号: 3, 页码: 733-745
作者:
Yan, Yousheng
;
Zhang, Chuan
;
Jin, Xiaohua
;
Zhang, Qinhua
;
Zheng, Lei
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/03
Phenylketonuria
Phenylalanine hydroxylase
Sanger sequencing
MLPA
Gap-PCR
Gene variant
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease.
期刊论文
Journal of Cellular Biochemistry, 2019, 卷号: 120, 期号: 3, 页码: 3630-3636
作者:
Xiao, Heng
;
Huang, Xiangjun
;
Xu, Hongbo
;
Chen, Xiang
;
Xiong, Wei
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/27
ATP2C1 gene
Hailey-Hailey disease (HHD)
Sanger sequencing
mutation analysis
splice-site mutation
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