- The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis
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Gee HY, Kim CK, Kim SW, Lee JH, Kim JH, Kim KH, Lee MG
- KMID: 1713852
- J Korean Med Sci.
- 2010 Jan;25(1):166-171.
- doi: 10.3346/jkms.2010.25.1.166
Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene.... -
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