The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

Journal of Cystic Fibrosis

Volumn 13, Issue 4, 2014, Pages 403-409

  De Boeck, K ^a   Zolin, A ^b   Cuppens, H ^c   Olesen, H V ^d   Viviani, L ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Allele frequency; CFTR mutation classes; CFTR mutations; Cystic fibrosis; Genotype; Prevalence

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA;

ALLELE; ARTICLE; AUSTRIA; BELARUS; BELGIUM; BULGARIA; CONTROLLED STUDY; CYSTIC FIBROSIS; CZECH REPUBLIC; DENMARK; DNA DETERMINATION; FRANCE; GENE FREQUENCY; GENOTYPE; GERMANY; GREECE; HETEROZYGOSITY; HUMAN; HUNGARY; IRELAND; ISRAEL; ITALY; LATVIA; MAJOR CLINICAL STUDY; MOLDOVA; NETHERLANDS; NONSENSE MUTATION; PORTUGAL; PREVALENCE; SERBIA; SLOVENIA; SPAIN; SWEDEN; SWITZERLAND; UNITED KINGDOM; CLINICAL TRIAL; EUROPE; FEMALE; GENETICS; MALE; METABOLISM; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; RETROSPECTIVE STUDY;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MUTATION; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 84902333547     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2013.12.003     Document Type: Article

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