نتایج جستجو برای: mutation detection
تعداد نتایج: 844642 فیلتر نتایج به سال:
To the Editor: In her recent letter to BLOOD, Dr Lynas reports the development of a ‘‘cheaper and more rapid polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) technique’’1 for detection of mutations in HFE,2 the candidate gene for hemochromatosis. The PCR-RFLP method discussed by Dr Lynas uses Rsa I and Bcl I to cleave products amplified using primers designed by F...
Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was...
wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...
Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the path...
background: for screening sequence variations in genes, rapid turnover time is of fundamental importance. while, many of the current methods are unfortunately time consuming and technically difficult to implement. denaturing high-performance liquid chromatography (dhplc) method had been shown to be a high-throughput, time saving, and economical tool for mutation screening. objective: in the pre...
Mutation detection plays an increasingly significant role in clinical diagnostic testing, posing formidable challenges for laboratories. The expanding indications for clinical molecular testing and the nuances of interpreting test results are discussed. Methods for screening mutation detection platforms and monitoring assay reliability are presented, and results of platform comparisons are desc...
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