- 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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- Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
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Choe YJ, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH
- KMID: 1713851
- J Korean Med Sci.
- 2010 Jan;25(1):163-165.
- doi: 10.3346/jkms.2010.25.1.163
Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF... -
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- Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
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Kim KW, Lee JH, Lee MG, Kim KH, Sohn MH, Kim KE
- KMID: 1779639
- Yonsei Med J.
- 2010 Nov;51(6):912-917.
- doi: 10.3349/ymj.2010.51.6.912
PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic... -
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- 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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- F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients
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Jung YY, Ha HI, Jung SH, Lee MG, Lee HW, Yoon JH, Choi JW, Yeh BI
- KMID: 755114
- Exp Mol Med.
- 2001 Mar;33(1):29-31.
Mutations of the transmembrane conductance regulator (CFTR) gene in cystic fibrosis lead to dysfunction of the lung, pancreas, and sweat glands, etc. To investigate the possibility of the relationship between... -
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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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- PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
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Cho SM, Shin S, Lee KA
- KMID: 2373594
- Ann Lab Med.
- 2016 Nov;36(6):555-560.
- doi: 10.3343/alm.2016.36.6.555
BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65... -
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