Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

10.1371/journal.pone.0173279

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Main Authors:	Lim G.X.Y., Yeo M., Koh Y.Y., Winarni T.I., Rajan-Babu I.-S., Chong S.S., Faradz S.M.H., Guan M.
Other Authors:	PAEDIATRICS
Format:	Article
Published:	Public Library of Science 2020
Subjects:	allele consensus genotype human major clinical study mutation polymerase chain reaction quantitative study reproducibility trinucleotide repeat validation process female fragile X syndrome genetics male validation study DNA FMR1 protein, human fragile X mental retardation protein Female Fragile X Mental Retardation Protein Fragile X Syndrome Genotype Humans Male Mutation Polymerase Chain Reaction Trinucleotide Repeat Expansion
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/166016
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1660162024-11-09T11:04:18Z Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene Lim G.X.Y. Yeo M. Koh Y.Y. Winarni T.I. Rajan-Babu I.-S. Chong S.S. Faradz S.M.H. Guan M. PAEDIATRICS allele consensus genotype human major clinical study mutation polymerase chain reaction quantitative study reproducibility trinucleotide repeat validation process female fragile X syndrome genetics male trinucleotide repeat validation study DNA FMR1 protein, human fragile X mental retardation protein DNA Female Fragile X Mental Retardation Protein Fragile X Syndrome Genotype Humans Male Mutation Polymerase Chain Reaction Trinucleotide Repeat Expansion 10.1371/journal.pone.0173279 PLoS ONE 12 3 e0173279 2020-03-27T06:27:10Z 2020-03-27T06:27:10Z 2017 Article Lim G.X.Y., Yeo M., Koh Y.Y., Winarni T.I., Rajan-Babu I.-S., Chong S.S., Faradz S.M.H., Guan M. (2017). Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. PLoS ONE 12 (3) : e0173279. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0173279 19326203 https://scholarbank.nus.edu.sg/handle/10635/166016 Public Library of Science Unpaywall 20200320
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	allele consensus genotype human major clinical study mutation polymerase chain reaction quantitative study reproducibility trinucleotide repeat validation process female fragile X syndrome genetics male trinucleotide repeat validation study DNA FMR1 protein, human fragile X mental retardation protein DNA Female Fragile X Mental Retardation Protein Fragile X Syndrome Genotype Humans Male Mutation Polymerase Chain Reaction Trinucleotide Repeat Expansion
spellingShingle	allele consensus genotype human major clinical study mutation polymerase chain reaction quantitative study reproducibility trinucleotide repeat validation process female fragile X syndrome genetics male trinucleotide repeat validation study DNA FMR1 protein, human fragile X mental retardation protein DNA Female Fragile X Mental Retardation Protein Fragile X Syndrome Genotype Humans Male Mutation Polymerase Chain Reaction Trinucleotide Repeat Expansion Lim G.X.Y. Yeo M. Koh Y.Y. Winarni T.I. Rajan-Babu I.-S. Chong S.S. Faradz S.M.H. Guan M. Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
description	10.1371/journal.pone.0173279
author2	PAEDIATRICS
author_facet	PAEDIATRICS Lim G.X.Y. Yeo M. Koh Y.Y. Winarni T.I. Rajan-Babu I.-S. Chong S.S. Faradz S.M.H. Guan M.
format	Article
author	Lim G.X.Y. Yeo M. Koh Y.Y. Winarni T.I. Rajan-Babu I.-S. Chong S.S. Faradz S.M.H. Guan M.
author_sort	Lim G.X.Y.
title	Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_short	Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_full	Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_fullStr	Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_full_unstemmed	Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
title_sort	validation of a commercially available test that enables the quantification of the numbers of cgg trinucleotide repeat expansion in fmr1 gene
publisher	Public Library of Science
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/166016
_version_	1821198320823959552

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

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