Novel CFTR gene mutation in a patient with CBAVD

Journal of Cystic Fibrosis

Volumn 6, Issue 6, 2007, Pages 423-425

  Goh, Denise L M ^a,b,c   Zhou, Youyou ^a   Chong, Samuel S ^a,b   Ngiam, Nicola S P ^a,b   Goh, Daniel Y T ^a,b  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^c AGENCY FOR SCIENCE   (Singapore)

Author keywords

Bronchiolitis obliterans organising pneumonia; Congenital bilateral absence of the vas deferens; Cystic fibrosis transmembrane conductance regulator gene; Meliodosis; Mutation

Indexed keywords

GENOMIC DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ANAMNESIS; ARTICLE; BRONCHIOLITIS OBLITERANS ORGANIZING PNEUMONIA; CASE REPORT; CHROMOSOME 7; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTRON; LUNG INFECTION; MALE; MALE GENITAL SYSTEM DISEASE; MELIOIDOSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING; UNIPARENTAL DISOMY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MALE; MUTATION; VAS DEFERENS;

EID: 35648994247     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2007.02.004     Document Type: Article

References (4)

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