The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

BACKGROUND: Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have rarely been described. In other genes containing such mutations, treatments with aminoglycoside types of antibiotics (e.g., gentamicin) were re...

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Main Authors: Simon, Amos J., Lev, Atar, Wolach, Baruch, Gavrieli, Ronit, Amariglio, Ninette, Rosenthal, Ester, Gazit, Ephraim, Eyal, Eran, Rechavi, Gideon, Somech, Raz
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2982813/
https://ncbi.nlm.nih.gov/pubmed/21103413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013659
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