geneticmutation相关论文
Tuberculosis is a chronic infectious disease caused by Mycobacterium tuberculosis.With the emergence of multiple drug-re......
A Novel Mutation (p.P511 S) in the ManNAc Kinase Domain of GNE in a Chinese Family With GNE Myopathy
GNE myopathy is caused by mutations in the gene encoding glucosamine (UDP-N-acetyl)-2-epime-rase/N-acetylmannosamine kin......
Objective:With peoples changing life style and dietary habit,the prevalence of type 2 diabetes mellitus(T2DM)has become ......
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Char
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先天性白内障是导致儿童低视力和失明的主要原因,约1/3的先天性白内障患者是遗传所致.先天性白内障的病因不同,且表型多样.先天性......
目的 探讨细胞膜脂质A生物合成基因lpxA/lpxC/lpxD突变导致鲍曼不动杆菌临床株对多黏菌素耐药的机制.方法 用透射电子显微镜(TEM)......
目的 研究骨髓增生异常综合征(MDS)患者中常见的基因突变,并探讨其对MDS患者造血干细胞移植后总生存期(OS)的影响.方法 选择2013年......
Male inheritance of X-linked liver glycogenosis from an undiagnosed maternal grandfather in a Chines
Hepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients ......
