- Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
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Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW
- KMID: 1783084
- J Korean Med Sci.
- 2008 Oct;23(5):912-915.
- doi: 10.3346/jkms.2008.23.5.912
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for... -
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- Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene
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Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY
- KMID: 1778446
- J Korean Med Sci.
- 2006 Jun;21(3):563-566.
- doi: 10.3346/jkms.2006.21.3.563
Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Recently, a 15-yr-old Korean boy was admitted... -
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- Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis
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Jung H, Ki CS, Koh WJ, Ahn KM, Lee SI, Kim JH, Ko JS, Seo JK, Cha SI, Lee ES, Kim JW
- KMID: 1735858
- Korean J Lab Med.
- 2011 Jul;31(3):219-224.
- doi: 10.3343/kjlm.2011.31.3.219
BACKGROUND: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well... -
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