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...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Lab Med
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Korean Society for Laboratory Medicine 2017
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5203987/
https://ncbi.nlm.nih.gov/pubmed/28028996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.2.108
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