Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis

Korean Journal of Laboratory Medicine

Volumn 31, Issue 3, 2011, Pages 219-224

  Jung, Haiyoung ^a   Ki, Chang Seok ^a   Koh, Won Jung ^a   Ahn, Kang Mo ^a   Lee, Sang Il ^a   Kim, Jeong Ho ^b   Ko, Jae Sung ^c   Seo, Jeong Kee ^c   Cha, Seung Ick ^d   Lee, Eun Sil ^e   Kim, Jong Won ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Seoul National University   (South Korea)

^d Kyungpook National University School of Medicine   (South Korea)

^e Yeungnam University College of Medicine   (South Korea)

Author keywords

CFTR; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Koreans; MLPA; Mutations; Sequencing

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; ASIAN; CASE REPORT; CYSTIC FIBROSIS; DNA SEQUENCE; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; MUTATION; SOUTH KOREA;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 79961093135     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2011.31.3.219     Document Type: Article

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