Detection of three common mutations causing β-thalassemia by using a closed-tube multiplex PCR.
Sign Up to like & getrecommendations! Published in 2018 at "Experimental and molecular pathology"
DOI: 10.1016/j.yexmp.2018.08.005
Abstract: Small oligonucleotides mutations are the large majority causes of β-thalassemia. Dual priming oligonucleotide PCR has been used to detect point mutations and thus could be applied to diagnose β-thalassemia. The goal of this study was… read more here.
Keywords: closed tube; tube multiplex; thalassemia; pcr ... See more keywords
Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1701446
Abstract: Cystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one… read more here.
Keywords: difficult treat; treat asthma; common mutations; cftr gene ... See more keywords
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Sign Up to like & getrecommendations! Published in 2020 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1779060
Abstract: ABSTRACT Introduction Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease predominantly affecting upper and lower motor neurons. Diagnosis of this devastating pathology is very difficult because the high degree of clinical heterogeneity with which… read more here.
Keywords: als genes; mutations als; diagnosis; amyotrophic lateral ... See more keywords
Abstract 4005: PH009-1, a highly potent and selective fourth-generation EGFR-TKI overcoming EGFR common mutations and T790M/C797S-mediated resistance in NSCLC
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-4005
Abstract: Background: Epidermal growth factor receptor (EGFR) activating mutations have been reported in 10-50% of patients with non-small cell lung cancer (NSCLC). The common mutations, ex19del (D) and L858R (L) substitution, are sensitive to first- and… read more here.
Keywords: common mutations; egfr tki; c797s; generation egfr ... See more keywords
Abstract 4391: Real world data and multi-genomic analysis of non-common mutations in the EGFR mutation-positive non-small cell lung cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-4391
Abstract: Introduction: There are similar and different properties between the epidermal growth factor receptor mutations (mEGFR), which are classified into common, uncommon, and compound mutation subtypes depending on their location and pattern on the EGFR gene.… read more here.
Keywords: common mutations; compound; cell; non common ... See more keywords
Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European Population
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13111940
Abstract: Background: Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting from various mutations in the ATP7B gene. Despite good knowledge and successful treatment options, WD is a severe disease that leads… read more here.
Keywords: common mutations; disease; diagnosis; wilson disease ... See more keywords