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Article

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Advances in biological regulation - 1 Jan 2018

Warren Alan J

Abstract excerpt

Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that read the genetic code in all cells in all kingdoms of life. Following pre-assembly in the nucleus, precursors of the large 60S and small 40S ribosomal subunits...

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Identifiers

PMID: 28942353
DOI: 10.1016/j.jbior.2017.09.002
PMCID: PMC6710477

Genes

SBDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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