Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype

Turkish Journal of Pediatrics

Volumn 50, Issue 4, 2008, Pages 383-385

  Yalçin, Ebru ^a   Özçlik, Uǧur ^a   Yilmaz, Engin ^a   Doǧru, Deniz ^a   Kiper, Nural ^a   Ferec, Claude ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

Author keywords

2183AA G D1152H; Cystic fibrosis; Mutation; Phenotype

Indexed keywords

ALANINE; ASPARTIC ACID; CHLORIDE; GLYCINE; HISTIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ATELECTASIS; BODY MASS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CYSTIC FIBROSIS; FECES ANALYSIS; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LUNG DISEASE; MALE; MECONIUM ILEUS; NEWBORN; PANCREAS FUNCTION; SWEAT TEST; GENETICS; GENOTYPE; ILEUS; MECONIUM; PHENOTYPE;

ADOLESCENT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE; HUMANS; ILEUS; INFANT, NEWBORN; MALE; MECONIUM; PHENOTYPE;

EID: 58149204354     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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