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Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology

Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1,...

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Detalles Bibliográficos
Autores principales: Santos, Diana, Mahtab, Mohammad, Boavida, Ana, Pisani, Francesca M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956524/
https://www.ncbi.nlm.nih.gov/pubmed/33669056
http://dx.doi.org/10.3390/ijms22052308