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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Detalles Bibliográficos
Autores principales: Simon, Amos J., Lev, Atar, Wolach, Baruch, Gavrieli, Ronit, Amariglio, Ninette, Rosenthal, Ester, Gazit, Ephraim, Eyal, Eran, Rechavi, Gideon, Somech, Raz
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2982813/
https://www.ncbi.nlm.nih.gov/pubmed/21103413
http://dx.doi.org/10.1371/journal.pone.0013659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2982813/
https://www.ncbi.nlm.nih.gov/pubmed/21103413
http://dx.doi.org/10.1371/journal.pone.0013659

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