[88] A NEW PATIENT CARRYING THE R136S MUTATION OF APOE GENE: PHENOTYPIC VARIABILITY OF THIS RECURRENT GENETIC DEFECTdoi:10.1016/s0939-4753(09)70089-4L. PisciottaA. BellocchioS. AiraldiS. BertoliniElsevier
These findings suggest the possibility that there might be a gene dose effect, since the age of onset ranged from 5 to 7 years younger in patients who received epsilon 4 alleles from the father. 展开 关键词: Alzheimer Disease Apolipoproteins E Membrane Proteins Mutation 载脂蛋白E类 膜蛋白质...
Assessment of Apoe Gene Variants and Apob-100 R3500q Mutation as Genetic Risks for Dyslipidemia: A Case-Control Studydoi:10.31838/hiv22.02.586Al-Ajeeli, Rafah KOAl-Musawi, BassamHIV Nursing
Apart from the well-established role of this protein as a transporter for cholesterol and other lipids, specific apoE isoforms have been established as risk factors for Alzheimer's disease (AD). Based on amino acid substitutions at positions 112 and 158, human apoE exists in three isoforms, E2...
In this regard, we investigated the genetic basis of an Autosomal Dominant Hypercholesterolemia (ADH) phenotype in an Iranian family via next-generation exome sequencing with a panel of hyperlipidemia. We report the first case of FH in an Iranian family due to a mutation in the APOE gene. A...
[88] a new patient carrying the r136s mutation of apoe gene: phenotypic variability of this recurrent genetic defectdoi:10.1016/S0939-4753(09)70089-4L. PisciottaA. BellocchioS. AiraldiS. BertoliniElsevier B.V.Nutrition, Metabolism and Cardiovascular Diseases...
doi:10.1002/alz.075596Quan, MeinaWang, QiQin, WeiJia, LongfeiJia, JianpingAlzheimer's & Dementia: The Journal of the Alzheimer's Association
Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice. Wu Dongfang,Yang Hong,Xiang Wei,Zhou Lichun,Shi Mingjian,Julies George,Laplante Janice M,Ballard Billy R,Guo Zhongmao. Journal of Lipid Research . 2005...
The invention belongs to the technical field of gene mutation detection, and concretely discloses a kit for simultaneously detecting SLCO1B1, APOE and LDLR gene multisite mutation. Through meticulous design, multi-time verification, screening and optimization, specific primers and probes based on a...
An abstract of the article "Characterization of a New LCAT Mutation Causing Familial LCAT Deficiency (FLD) and the Role of APOE as a Modifier Gene of the FLD Phenotype," by A. Baass, H. Wassef, L. Bernier, R. Dufour, and J. Davignon is presented....