Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.622
Abstract: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X‐linked recessive mode of inheritance. Patients with DMD are usually characterized by… read more here.
Keywords: dmd; muscular dystrophy; dystrophy; application whole ... See more keywords
Application of Whole-Genome Sequencing to Transposon Mutants of Salmonella Heidelberg.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9570-7_2
Abstract: Transposons are elements widely dispersed among organisms which are able to move and replicate fragments of genomes. The extensive variability in transposons present in most organisms requires extensive identification and interpretation of the resulting transposon… read more here.
Keywords: sequencing transposon; whole genome; application whole; genome sequencing ... See more keywords
The Application of Whole−Exome Sequencing in Patients With FUO
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2021.783568
Abstract: Background Fever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis. In… read more here.
Keywords: application whole; patients fuo; whole exome; sequencing patients ... See more keywords
Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12020198
Abstract: Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated… read more here.
Keywords: application whole; sequencing functional; whole exome; marfan syndrome ... See more keywords