欢迎您!
东篱公司
退出
申报数据库
申报指南
立项数据库
成果数据库
期刊论文
会议论文
著 作
专 利
项目获奖数据库
位置:
成果数据库
>
会议
> 会议详情页
NICCD一家系SLC25A13基因诊断:cDNA克隆及SNP分析法识别大片段插入新突变.
所属机构名称:暨南大学
会议名称:庆祝中国当代儿科杂志创刊15周年大会暨当代儿科论坛
时间:2013.3.3
成果类型:会议
相关项目:基于SLC25A13基因新突变识别、诊断和筛查的NICCD深入研究
作者:
林伟霞|张占会|邓梅|宋元宗|
同会议论文项目
基于SLC25A13基因新突变识别、诊断和筛查的NICCD深入研究
期刊论文 17
会议论文 20
著作 1
同项目会议论文
Clinical and laboratory abnormalities in patients with citrin deficiency after the NICCD stage: Foll
Screening for high-frequency mutations of SLC25A13 gene by means of melting curve analysis in Guangd
Further insight into molecular and clinical spectrum of citrin deficiency: Experience on a Chinese c
SLC25A13 gene analysis in neonatal intrahepatic cholestasis caused by citrin deficiency:Seven-year e
A novel aberrant transcript r.329_468del identified by cDNA cloning analysis of SLC25A13 gene in a p
Marked transcript diversity of SLC25A13 gene in human lymphocytes, and feasibility of cDNA cloning a
SLC25A13 gene analysis in neonatal intrahepatic cholestasis caused by citrin deficiency:Seven-year e
A novel aberrant transcript r.329_468del identified by cDNA cloning analysis of SLC25A13 gene in a p
Marked transcript diversity of SLC25A13 gene in human lymphocytes, and feasibility of cDNA cloning a
Screening for prevalent SLC25A13 mutations in Pearl River Delta area of China: A pilot study using m
Citrin缺陷病患儿118例SLC25A13基因突变和临床特征分析.
SLC25A13基因新突变p.R355Q的识别及g.IVS6+5G>A突变对基因转录产物的影响.
Hepatic imaging features of neonatal intrahepatic cholestasis caused by citrin deficiency: Investiga
Clinical and laboratory abnormalities in patients with citrin deficiency after the NICCD stage: Foll
Citrin缺陷病致病基因SLC25A13新错义突变的致病性分析
希特林缺陷病
Prenatal diagnosis of citrin deficiency: A case report
Cloning of the entire ORF of human SLC25A13 gene and identification of novel splicing transcripts in
Severe dyslipidemia and cholestasis in paucity of intrahepatic bile ducts (PIBD): report of three ca