Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

Journal of Cystic Fibrosis

Volumn 5, Issue 3, 2006, Pages 193-195

  Castaldo, Giuseppe ^a,b   Tomaiuolo, Rossella ^b   Vanacore, Borghina ^b   Ferrara, Pietro ^c   del Vecchio, Stefania ^c   Carnovale, Vincenzo ^c   Abete, Pasquale ^c   Rengo, Franco ^c   Salvatore, Francesco ^b  

^a UNIVERSITY OF MOLISE   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^c Department of Clinical Medicine   (Italy)

Author keywords

Cystic fibrosis; Genotype phenotype correlation; Late diagnosis mild CF

Indexed keywords

ASPARTIC ACID; GLYCINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; BRONCHIECTASIS; BRONCHOPNEUMONIA; CASE REPORT; CYSTIC FIBROSIS; DISEASE SEVERITY; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; INTESTINE OBSTRUCTION; LUNG DISEASE; MALE; PANCREAS DISEASE; PANCREAS INSUFFICIENCY; PHENOTYPIC VARIATION; SIBLING; SWEAT TEST;

AGE OF ONSET; BRONCHIECTASIS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXOCRINE PANCREATIC INSUFFICIENCY; GENOTYPE; HUMANS; INTESTINAL OBSTRUCTION; LUNG; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SIBLINGS; VAS DEFERENS;

EID: 33745991838     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2005.12.001     Document Type: Article

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