Article
Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.
Genes - 23 Nov 2021
Gentile Giulia, Perrone Benedetta, Morello Giovanna, Simone Isabella Laura, Andò Sebastiano, Cavallaro Sebastiano, Conforti Francesca Luisa
Abstract excerpt
The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes can vary. To date, no genetic protective factors located close to SOD1 have been associated with the mild progressive homozygous phenotype. Using Next Generation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
