This article reviews the nonsense mutation and the genetic disease caused by it,progress on new therapeutic drugs for this genetic disease,PTC124 and its mechanism of action and pharmacodynamics in treating Duchenne muscular dystrophy(DMD) and cystic fibrosis in mice.
文章综述了无义突变及其引起的遗传性疾病,治疗这类疾病新药的发展,PTC124及其作用机制以及对杜兴肌营养不良和囊性纤维变性等的药效学研究进展。
Genetic diseases have characteristic cardiovascular manifestations.
遗传性疾病具有一定的特征性心血管病变,这些心血管异常是影响患者的生存和预后的主要原因之一,也是遗传性疾病早期临床诊断的重要线索。
It has been proved that many kinds of genetic diseases can influence the development of tooth, with symptoms of abnormalities in tooth structure, appearance.
目前研究发现多种遗传性疾病都能影响到牙齿的发育,表现为牙齿结构、形态、数目和萌出等方面的异常。
The Parameter Linkage Analysis of the Genetic Disease Gene Location;
遗传性疾病基因定位的连锁分析方法
Application of chromosomal technology in the etiological diagnosis of hereditary diseases
染色体技术诊断遗传性疾病病因的应用
The Study of the Biochips for Non-invasive Prenatal Diagnosis on Inherited Disorder;
无创性产前诊断遗传性疾病的生物芯片的研究
FHCM is a heterozygote autosomal dominant disease, and the incidence rate in male is obvious higher than that in female.
属杂合子常染色体显性遗传性疾病,男性患病率高于女性。
Neurofibromatosis is one of autosomal-dominant neurogenetic diseases with relatively low incidence.
神经纤维瘤病是一常染色体显性遗传性疾病，临床上较为少见。
Therapeutic Effects of D1-3n-Butyphthalide on Patients with Neurodegenerative and Neurogenetic Diseases
丁苯酞治疗神经系统变性病及遗传性疾病的疗效观察
Prenatal diagnosisó refers to diagnosis of the fetus regarding its congenital defect and hereditary diseases.
产前诊断，是指对胎儿进行先天性缺陷和遗传性疾病的诊断。
genetic and congenital disorder
遗传性与先天性疾病
THE MATHEMATICAL MODEL AND ITS A PPLICATION ON THE SOLUTION OF A CLASS OF SEX-LINKAGE DISEACES;
一类伴性遗传疾病的线性模型及解法
Study on the Clinic and Molecular Mechanism of Hereditary Bleeding Disorders;
遗传性出血性疾病的临床和发病机理研究
"Perhaps the most important cause of congenital disease is heredity. Hemophilia,a disease in which the blood does not clot, is hereditary. "
先天性疾病最重要的病因也许是遗传。血友病，一种血液不凝聚的疾病，便是遗传性的。
Mapping the Disease Genes for Four Families with Inherited Defects;
三种先天性遗传病家系的疾病基因定位
A Molecular Study of Hereditary Bleeding and Thrombosis Associated Disorders;
遗传性出血疾病与血栓相关疾病的分子生物学研究
Molecular Genetics Study of Primary Retinitis Pigmentosa among Chinese;
原发性视网膜色素变性疾病的分子遗传学研究
With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance.
据系谱分析,该疾病符合常染色体显性遗传方式。
The Study on Gene Mutations of Two Inherited Blood Diseases in Yunnan Province;
云南省两种遗传性血液疾病的基因突变研究
Studies on the Susceptible Genes of the Autoimmune Thyroid Diseases;
自身免疫性甲状腺疾病遗传易感基因筛选研究
Analysis of IgVH Genetic Constitution and Mutation Status in Patients with Chronic Lymphocytic Leukemia;
淋巴增殖性疾病分子生物学与分子遗传学研究