Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders

Seminars in Respiratory and Critical Care Medicine

Volumn 36, Issue 2, 2015, Pages 180-193

  Bombieri, Cristina ^a   Seia, Manuela ^b   Castellani, Carlo ^c  

^a UNIVERSITY OF VERONA   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

bronchiectasis; CBAVD; CFTR mutations; CFTR related disorders; cystic fibrosis; genotype phenotype correlations; modifier genes; pancreatitis

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

AGENESIS; ARTICLE; BRONCHIECTASIS; CFTR GENE; CHRONIC PANCREATITIS; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; CYSTIC FIBROSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATOR GENE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGNOSIS; FEMALE; GENETICS; GENOTYPE; MALE; MODIFIER GENE; MUTATION; PANCREATITIS; PHENOTYPE;

BRONCHIECTASIS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENES, MODIFIER; GENOTYPE; HUMANS; MALE; MUTATION; PANCREATITIS; PHENOTYPE;

EID: 84926357772     PISSN: 10693424     EISSN: 10989048     Source Type: Journal    
DOI: 10.1055/s-0035-1547318     Document Type: Article

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