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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Newborn screening for fragile x syndrome: do we care what parents think?

Jeffrey R Botkin1

  • 1Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA. jeffrey.botkin@hsc.utah.edu

Pediatrics
|June 1, 2011
PubMed
Abstract

No abstract available in PubMed .

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Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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