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Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency
BACKGROUND: We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis. METHODS: In parallel with a genetic analysis, the pathogenicity of...
Autores principales: | Lee, Jaewoong, Park, Joonhong, Choi, Hayoung, Kim, Jiyeon, Kwon, Ahlm, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Kim, Yonggoo, Lee, Jae Wook, Chung, Nack-Gyun, Cho, Bin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Laboratory Medicine
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203987/ https://www.ncbi.nlm.nih.gov/pubmed/28028996 http://dx.doi.org/10.3343/alm.2017.37.2.108 |
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