Browsing by Keyword : Point Mutation

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Showing results 1 to 15 of 15

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