Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1709695
Abstract: Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic… read more here.
Keywords: novel mutations; charcot marie; mutations involved; marie tooth ... See more keywords
Molecular detection of mutations involved in Helicobacter pylori antibiotic resistance in Algeria
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Antimicrobial Chemotherapy"
DOI: 10.1093/jac/dky167
Abstract: Objectives In Algeria, there are limited data regarding the pattern of Helicobacter pylori primary antibiotic resistance. The aim of this study was to evaluate the primary resistance of H. pylori to clarithromycin, ciprofloxacin, tetracycline and… read more here.
Keywords: clarithromycin; ciprofloxacin; resistance; antibiotic resistance ... See more keywords