Nature

Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies

To compare the sensitivity of the mutation detection techniques single-strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA), we analyzed a cohort of 73 patients with a ...
Nature

Non-Syndromic Deafness Associated with a Mutation and a Polymorphism in the Mitochondrial 12S Ribosomal RNA Gene in a Large Zairean Pedigree

Hereditary non-syndromic deafness has been associated with a point mutation in the mitochondrial 12S rRNA gene. We present data from deaf individuals in 12 nuclear families originating from a small ...
ascopubs.org

Comparison between whole exome sequencing (WES) and single nucleotide polymorphism (SNP)-based tumor mutation burden analysis.

Association of genetic variations within the T-cell costimulatory LIGHT gene with outcome in stage II and III colon cancer. This is an ASCO Meeting Abstract from the 2019 ASCO Annual Meeting I. This ...
ascopubs.org

Are MGMT promoter methylation and EGFR mutations early markers of tumor progression in colorectal cancer?

Genetic polymorphism associated with chronic neurotoxicity and recurrence in curatively-resected colon cancer patients receiving oxaliplatin-based adjuvant chemotherapy. Background: The colorectal ...