Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental eye research"
DOI: 10.1016/j.exer.2019.107846
Abstract: The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved, with limited polymorphisms in coding regions. Rare variants in CRX are usually considered causative for different forms of… read more here.
Keywords: crx variants; genotype phenotype; analysis; crx ... See more keywords
Specific Therapy Based on the Genotype in a Malignant Form of Long QT3, Carrying the V411M Mutation.
Sign Up to like & getrecommendations! Published in 2019 at "International heart journal"
DOI: 10.1536/ihj.18-705
Abstract: Congenital long QT syndrome (LQTS) is a cardiac channelopathy that leads to the prolongation of the QT interval. This prolongation can lead to ventricular tachyarrhythmia, syncope, and sudden cardiac death. There are various types of… read more here.
Keywords: therapy based; specific therapy; genotype malignant; therapy ... See more keywords