Results 121 to 130 of about 16,526 (215)
[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study]. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2023 Li KY +7 more
europepmc +1 more source
The Detection of Common Mutations in Phenylketonuria and the Mutation Spectrum of PAH in Chinese Population [PDF]
, 2014 苯丙酮尿症(phenylketonuria,PKU)是一种常见的常染色体隐性遗传代谢病，严重危害着人类健康。该病主要是由于苯丙氨酸羟化酶(phenylalaninehydroxylase,PAH)基因突变所致，使得PAH活性下降或者缺乏，导致苯丙氨酸不能正常代谢，血液、组织中的苯丙氨酸及其旁路代谢产物堆积，最终导致中枢神经系统受到不可逆的损害，而出现精神行为异常、癫痫和智力低下等症状。PKU是一种可通过饮食控制进行治疗的遗传病，早发现早治疗是其治疗的关键 ...
贾晓菲
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Clinicopathological Characteristics of Colorectal Cancer Patients with Different Mismatch Repair Statuses and Their Correlation with KRAS/NRAS/BRAF Gene Mutations [PDF]
ObjectiveTo investigate the clinicopathological characteristics of colorectal cancer patients with different mismatch repair (MMR) statuses and their correlation with KRAS/NRAF/BRAF (KNB) gene mutations.
Jinchuan YU +4 more
core +1 more source
[Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report]. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2023 Lu YY, Zhang ZH, Li X, Guan N.
europepmc +1 more source
耐辐射球菌DNA修复开关基因<I>pprI</I>缺陷性突变和功能补偿性突变株的建立 [PDF]
, 2005 丽芬 黄 +3 more
openalex +1 more source
[Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2023 Shen N +8 more
europepmc +1 more source
Research advance in genetic diagnosis of monogenic inherited diseases [PDF]
, 2016 单基因遗传病(简称单基因病)种类、分型繁多,常规诊断难以确诊,而基因诊断技术在遗传病特别是单基因病的确诊、分型等方面都发挥着不可或缺的作用。近一、二十年来,基因诊断技术进展迅猛,各种检测方法层出不穷。本文重点围绕基因诊断技术的最新进展进行综述,以期对临床诊断和预防工作提供一些有益的启示。Monogenic diseases are caused by inheritance of single mutated gene, but the type of the diseases are ...
梁宇静, 郭东炜, 郭奕斌
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