Browsing "Journal Papers" by Keyword : Point Mutation
Showing results 1 to 15 of 15
| Pub Year | | Title | Author(s) |
| 1998 | | A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. | 이은소 |
| 2004 | | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 주인수, 허균 |
| 2012 | | A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V | 김옥화 |
| 2014 | | B-RafV600E inhibits sodium iodide symporter expression via regulation of DNA methyltransferase 1. | 김장희, 박태준, 소의영, 이정훈, 최용원, 최용준 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
| 1998 | | Determination of encephalomyocarditis viral diabetogenicity by a putative binding site of the viral capsid protein. | 강엽, 윤지원 |
| 2000 | | DNA-binding activity of the N-terminal cleavage product of poly(ADP-ribose) polymerase is required for UV mediated apoptosis. | 손성향 |
| 1997 | | Gain or loss of diabetogenicity resulting from a single point mutation in recombinant encephalomyocarditis virus. | 강엽, 윤지원 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2004 | | Inactivation patterns of p16/INK4A in oral squamous cell carcinomas. | 이정근 |
| 1996 | | Interaction of the human T-cell lymphotropic virus type 1 tax transactivator with transcription factor IIA. | 최경숙 |
| 2000 | | Mutation analysis of Korean patients with citrullinemia. | 한시훈 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2005 | | The escape of temperature-sensitive T antigen immortalized rat hepatocytes from conditional immortalization. | 조혜성 |
| 2010 | | Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation. | 홍정, 황진순 |
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