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A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman–Bodian–Diamond Syndrome Protein SBDS

The Shwachman–Diamond Syndrome (SDS) is an autosomal recessive disease whose majority of patients display mutations in a ribosome assembly protein named Shwachman–Bodian–Diamond Syndrome protein (SBDS). A specific therapy for treating this rare disease is missing, due to the lack of knowledge of the...

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Detalles Bibliográficos
Autores principales: Spinetti, Elena, Delre, Pietro, Saviano, Michele, Siliqi, Dritan, Lattanzi, Gianluca, Mangiatordi, Giuseppe Felice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320453/
https://www.ncbi.nlm.nih.gov/pubmed/35887285
http://dx.doi.org/10.3390/ijms23147938