missensemutation相关论文
Identification and functional analysis of a novel connexin 50 mutation associated with autosome domi
Purpose To identify the potential pathogenic mutation responsible for autosomal dominan congenital cataract(ADCC)in a Ch......
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive non-syndromic
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and transmembrane channel-l......
Purpose To identify the spectrum of RB1 gene mutation in Chinese retinoblastoma(RB)patients Methods A total of 38 RB pat......
The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Tw
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Two rare mutations in exon 3 and 5 of HSG/MFN2 gene may dance together in the mixed style of essenti
Vascular proliferative disorders,such as atherosclerosis and restenosis,are the most common causes of severe cardiovascu......
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目的:分析一例临床表现疑似德朗热综合征的男性患儿的遗传学病因。方法:采集患儿的外周血样进行染色体核型分析，基因组拷贝数变异测......
工具包 W-2Bao 老鼠是有在我们的实验室被引起的一个 B6 背景的单个基因的正染色体的主导的变化老鼠。而同质接合体有身体，黑眼睛，和......
Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-po
AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cance......
目的肾素基因错义突变与原发性高血压的相关性.方法运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)确定外显子9上的引起氨基酸......
