Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis

Journal of Korean Medical Science

Volumn 23, Issue 5, 2008, Pages 912-915

  Jung, Min Ko ^a   Kim, Gu Hwan ^a   Kyung, Mo Kim ^a   Hong, Soo Jong ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

CFTR gene; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Meconium ileus

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CASE REPORT; CHOLESTASIS; CYSTIC FIBROSIS; EXON; FEMALE; GENETICS; HUMAN; INFANT; KOREA; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; TREATMENT OUTCOME;

ALLELES; BASE SEQUENCE; CHOLESTASIS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; TREATMENT OUTCOME;

EID: 56049102663     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2008.23.5.912     Document Type: Article

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