目的对一个遗传性异常纤维蛋白原血症家系进行表型和基因型分析。
Objective To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.
无论你具有遗传性还是获得性异常乳癌基因，如果你有一个正常基因，这个基因都仍将运行以控制细胞生长并预防基因。
Whether you inherited an abnormal breast cancer gene or acquired it, if you have one normal gene, that gene will still work to control cell growth and prevent cancer.
遗传性基因异常：有些人出生时即具有来自父母的异常基因。
Inherited genetic abnormality: Some people are born with an abnormal gene passed on by a parent.
普遍认为精神疾病大多是遗传性大脑疾病、机体异常，并且是药物可以控制的。
The prevailing wisdom is that psychiatric disorders are genetically based brain diseases, biological abnormalities that can be controlled with medication.
作者表示，受SADS影响的家族中的人心脏具有遗传性缺陷，使得他们易患心律严重异常并猝死。
Families affected by SADS have an inherited genetic heart defect, which makes them prone to severe abnormalities in heart rhythm, and sudden death, suggest the authors.
遗传性基因异常：有些人出生时即具有来自父母的异常基因。
Some people are born with an abnormal gene passed on by a parent.
该病是一种遗传性的视网膜退化疾病，由于一个称为RPE65的基因异常，导致视觉进行性退化。
This disease causes progressive deterioration in vision, due to an abnormality in a particular gene called RPE65.
遗传性耳聋由遗传缺陷引起，与基因异常及相关的综合症关系密切，属临床常见疾病。
Hereditary hearing impairment is caused by genetic defects and is a common clinical disease.
血管性血友病是最常见的遗传性出血性疾病，由一种血管性血友病因子数量或质量异常继承引起的。
Von Willebrand disease is the most commonly inherited bleeding disorder, caused by the inheritance of a quantitative or qualitative abnormality of von Willebrand factor.
复发性流产相关的止血功能异常包括遗传性、获得性以及联合功能异常。
Recent research shown that dysfunction of homeostasis associated with recurrent spontaneous abortion(RSA) includes inherited, acquired, and combined dysfunction of homeostasis.
我们综述了各种相对多见的遗传性角膜营养不良的发病机制研究新进展，重点涉及基因功能、突变蛋白、异常的酶活性等方面。
This article summarizes the current achievemant about the pathogenesis of the disease, with emphasis on the genes, mutant proteins, inactive enzymes activity and so on.
我们综述了各种相对多见的遗传性角膜营养不良的发病机制研究新进展，重点涉及基因功能、突变蛋白、异常的酶活性等方面。
This article summarizes the current achievemant about the pathogenesis of the disease, with emphasis on the genes, mutant proteins, inactive enzymes activity and so on.
应用推荐