A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients

Clinical Chemistry and Laboratory Medicine

Volumn 49, Issue 1, 2011, Pages 49-54

  Crovella, Sergio ^a   Segat, Ludovica ^a   Amato, Annalisa ^b   Athanasakis, Emmanouil ^a   Bezzerri, Valentino ^c   Braggion, Cesare ^d   Casciaro, Rosaria ^e   Castaldo, Giuseppe ^f   Colombo, Carla ^g   Covone, Angela Elvira ^e   De Rose, Virginia ^h   Gagliardini, Rolando ⁱ   Lanzara, Carmen ^a   Minicucci, Laura ^e   Morgutti, Marcello ^a   Nicolis, Elena ^c   Pardo, Francesca ^j   Quattrucci, Serena ^b   Raia, Valeria ^k   Ravazzolo, Roberto ^e,l   Seia, Manuela ^g   Stanzial, Valentino ^c   Termini, Lisa ^j   Zazzeron, Laura ^g   Cabrini, Giulio ^c   Gasparini, Paolo ^a   more..

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ Salesi Children's Hospital   (Italy)

^j Children's Hospital   (Italy)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^l UNIVERSITY OF GENOA   (Italy)

more..

Author keywords

Cystic fibrosis; DEFB1; Functional SNPs; Innate immunity; Lung phenotype; Modifier genes

Indexed keywords

BETA DEFENSIN 1; GENOMIC DNA;

5' UNTRANSLATED REGION; ADULT; ARTICLE; BLOOD ANALYSIS; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; ITALY; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

5' UNTRANSLATED REGIONS; ADULT; BETA-DEFENSINS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; ITALY; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 79953145166     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2011.023     Document Type: Article

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