N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis

Journal of Cystic Fibrosis

Volumn 6, Issue 3, 2007, Pages 220-222

  Van Hoorenbeeck, Kim ^a   Storm, Katrien ^a   van den Ende, Jenneke ^a   Biervliet, Martine ^a   Desager, Kristine N ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

5T; Borderline sweat chloride; CBAVD; CFTR; Cystic fibrosis; N1303K; TG13

Indexed keywords

ANTIBIOTIC AGENT; CHLORIDE; GUANINE; MUCOLYTIC AGENT; THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; AGE; ARTICLE; AZOOSPERMIA; BRONCHITIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COUGHING; CYSTIC FIBROSIS; DNA DETERMINATION; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; GONADAL AGENESIS; HUMAN; INTRON; MALE; PATHOGENESIS; PHYSIOTHERAPY; PNEUMONIA; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SEQUENCE ANALYSIS; SINUSITIS; SWEAT TEST; SYMPTOM; THORAX RADIOGRAPHY; VAS DEFERENS;

CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA FINGERPRINTING; FEMALE; HUMANS; INFANT; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEAT;

EID: 34147159351     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2006.10.002     Document Type: Article

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