Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

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Bibliographic Details
Published inJournal of medical genetics Vol. 41; no. 11; p. e118
Main Authors Niel, F, Martin, J, Dastot-Le Moal, F, Costes, B, Boissier, B, Delattre, V, Goossens, M, Girodon, E
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.11.2004
BMJ Publishing Group LTD
BMJ Group
Subjects
Adolescent
Adult
Alleles
CBAVD
CFTR deletion
CFTR duplication
CFTR gene
CFTR rearrangement
Child
congenital bilateral absence of the vas deferens
Counseling
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
cystic fibrosis transmembrane conductance regulator gene
denaturing gradient gel electrophoresis
denaturing high pressure liquid phase chromatography
DGGE
DHPLC
disseminated bronchiectasis
DNA Mutational Analysis - methods
Female
FISH
fluorescent in situ hybridisation
Gene Deletion
Gene Duplication
Genetic Counseling
Genetic disorders
Humans
Infant
Laboratories
Male
multiplex PCR
Mutation
Online Mutation Report
Parents & parenting
Polymerase Chain Reaction
QFM-PCR
semi-quantitative fluorescent multiplex PCR
semi-quantitative PCR
Time Factors
France
Online AccessGet full text

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More Information
Bibliography:PMID:15520400
Correspondence to:
 Emmanuelle Girodon
 Service de Biochimie et Génétique, AP-HP et INSERM U468, Hôpital Henri-Mondor, 94010 Créteil, France; Emmanuelle.Girodon@im3.inserm.fr
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.022400