How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies

A number of different defects in the process of ribosome production can lead to a diversified spectrum of disorders that are collectively identified as ribosomopathies. The specific factors involved may either play a role only in ribosome biogenesis or have additional extra-ribosomal functions, maki...

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Bibliographic Details
Main Authors: Giulia Venturi, Lorenzo Montanaro
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Cells
Subjects:
ribosome biogenesis
rare diseases
Diamond Blackfan anemia
X-linked dyskeratosis congenita
5q− syndrome
Shwachman-Diamond syndrome
Online Access:https://www.mdpi.com/2073-4409/9/10/2300

Internet

https://www.mdpi.com/2073-4409/9/10/2300

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