Related Experiment Video
Updated: Aug 18, 2026

06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Report of 3 cases with ataxia-telangiectasia in a family]
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|March 31, 2005
Abstract
No abstract available in PubMed .
Related Concept Videos
Pedigree Analysis
Overview
Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

