Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
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Abbreviations
ACMG
American College of Medical Genetics (http://www.acmg.net//AM/)
CBAVD
Congenital Bilateral Absence Of The Vas Deferens
CF
Cystic Fibrosis
CF EQA
Cystic Fibrosis External Quality Assessment
CFGAC
Cystic Fibrosis Genetic Analysis Consortium (http://www.genet.sickkids.on.ca)
CFTR
Cystic Fibrosis Transmembrane Conductance Regulator
DGGE
Denaturing Gradient Gel Electrophoresis
DHPLC
Denaturing High Performance Liquid Chromatography
DIOS
Distal Intestinal Obstruction Syndrome
ENaC
Epithelial Sodium Channel
HGVS
Human Genome Variation Society (http://www.hgvs.org/)
HRMCA
High-Resolution Melting Curve Analysis
HUGO
Human Genome Organization (http://www.hugo-international.org/)
IFHGS
International Federation of Human Genetics Societies (http://www.ifhgs.org/)
MI
Meconium Ileus
MLPA
Multiplex Ligation-dependent Probe Amplification
OECD
Organization for Economic Co-operation and Development (http://www.oecd.org).
Keywords
Cystic fibrosis
CFTR
Genetic analysis
Diagnosis
Genotype/phenotype correlation
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Copyright © 2008 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.