Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations-Reference-Cited by-同舟云学术

Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations

Published:2010-04 Issue:2 Volume:14 Page:171-174
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Svensson Annika M.¹²,Chou Lan-Szu²,Miller Christine E.³,Robles Jorge A.³,Swensen Jeffrey J.¹³,Voelkerding Karl V.¹²,Mao Rong¹²,Lyon Elaine¹²

Affiliation:

1. Department of Pathology, University of Utah, Salt Lake City, Utah.

2. ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.

3. TARUP Laboratories, Salt Lake City, Utah.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0099

Reference18 articles.

1. Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms

2. Frequency of large CFTR gene rearrangements in Italian CF patients

3. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene

4. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

5. A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening

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3. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis;The Journal of Molecular Diagnostics;2016-03

4. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine;PLOS ONE;2015-07-24

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