Listar por tema "mutations"

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Extra-genital Neisseria gonorrhoeae infections with genetic mutations conferring ciprofloxacin resistance among men who have sex with men and transgender women in Lima, Peru

Qquellon Palacios, Luz Jazmín; Vargas Rivera, Silver Keith; Eguiluz, Maria; Vasquez, Francesca; Durand Vara, David Percy; Allan-Blitz, Lao-Tzu; Konda, Kelika Anne; Ochoa Woodell, Theresa Jean; Caceres Palacios, Carlos Fernando; Klausner, Jeffrey D (SAGE Publications, 2023)

Background: The increasing prevalence of drug-resistant Neisseria gonorrhoeae (NG) infections has caused great concern. Ciprofloxacin remains the empiric antimicrobial recommended to treat NG infections in Peru disregarding ...
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

Castano, A. G.; de Nanclares, G. P.; Madariaga, L.; Aguirre, M.; Madrid, A.; Chocron, S.; Nadal, I.; Navarro, M.; Lucas, E.; Fijo, J.; Espino, M.; Espitaletta, Z.; Nieto, V. G.; de Frutos, D. B.; Loza, R.; Pintos, G.; Castano, L.; Ariceta, G.; RenalTube Group (Public Library of Science, 2017)

Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we ...

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