Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency

Journal of Korean Medical Science

Volumn 25, Issue 1, 2010, Pages 163-165

  Choe, Young June ^a   Ko, Jae Sung ^a   Seo, Jeong Kee ^a   Han, Jae Jun ^a   Shim, Jung Ok ^a   Koh, Young Yull ^a   Lee, Ran ^b   Ki, Chang Seok ^a   Kim, Jong Won ^c   Kim, Jung Ho ^d  

^a Seoul National University College of Medicine   (South Korea)

^b Konkuk University School of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

Cystic fibrosis; Cystic fibrosis conductance regulator; Exocrine pancreatic insufficiency; Mutation

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CYSTIC FIBROSIS; DIFFERENTIAL DIAGNOSIS; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PANCREAS EXOCRINE INSUFFICIENCY; SOUTH KOREA; STEATORRHEA;

ALTERNATIVE SPLICING; BASE SEQUENCE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIAGNOSIS, DIFFERENTIAL; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; REPUBLIC OF KOREA; STEATORRHEA;

EID: 77949315996     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.1.163     Document Type: Article

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