Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1735
Abstract: Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The… read more here.
Keywords: families wilson; molecular analysis; analysis chinese; disease ... See more keywords
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.869210
Abstract: Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We conducted a pedigree analysis of… read more here.
Keywords: chinese cohort; analysis chinese; cohort infants; phenotype analysis ... See more keywords