Long-range structural defects by pathogenic mutations in most severe glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common blood disorder, presenting multiple symptoms, including hemolytic anemia. It affects 400 million people worldwide, with more than 160 single mutations reported in G6PD. The most severe mutations (about 70) are classified as class...

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Detalles Bibliográficos
Autores principales: Horikoshi, Naoki, Hwang, Sunhee, Gati, Cornelius, Matsui, Tsutomu, Castillo-Orellana, Carlos, Raub, Andrew G., Garcia, Adriana A., Jabbarpour, Fatemeh, Batyuk, Alexander, Broweleit, Joshua, Xiang, Xinyu, Chiang, Andrew, Broweleit, Rachel, Vöhringer-Martinez, Esteban, Mochly-Rosen, Daria, Wakatsuki, Soichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7848525/
https://www.ncbi.nlm.nih.gov/pubmed/33468660
http://dx.doi.org/10.1073/pnas.2022790118

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