Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

Genetics in Medicine

Volumn 18, Issue 4, 2016, Pages 333-340

  Dupuis, Annie ^a,b   Keenan, Katherine ^a   Ooi, Chee Y ^c,d   Dorfman, Ruslan ^e   Sontag, Marci K ^f   Naehrlich, Lutz ^g   Castellani, Carlo ^h   Strug, Lisa J ^b,i   Rommens, Johanna M ^i,j   Gonska, Tanja ^b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e Geneyouin Inc   (Canada)

^f Global Health and Health Disparities   (United States)

^g JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^h UNIVERSITY HOSPITAL OF VERONA   (Italy)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; BODY MASS; CANADIAN; CHILD; DISEASE SEVERITY; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENOTYPE; GERMANY; HUMAN; ITALY; LUNG FUNCTION; MAJOR CLINICAL STUDY; MECONIUM ILEUS; NUTRITION; PANCREAS INSUFFICIENCY; PHENOTYPE; PREVALENCE; ADOLESCENT; ADULT; CANADA; COMPLICATION; CYSTIC FIBROSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; ILEUS; LUNG FUNCTION TEST; MALE; MECONIUM; MUTATION; REGISTER; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; CANADA; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; ILEUS; MALE; MECONIUM; MUTATION; PHENOTYPE; PREVALENCE; REGISTRIES; RESPIRATORY FUNCTION TESTS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84962586904     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.79     Document Type: Article

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