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Article

The Shwachman-Diamond SBDS protein localizes to the nucleolus.

Blood - 15 Aug 2005

Austin Karyn M, Leary Rebecca J, Shimamura Akiko

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The gene for this syndrome, SBDS, encodes a highly conserved novel protein. We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 patients with SDS and healthy controls. As predicted by gene mutation,...

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Source

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Identifiers

PMID: 15860664
DOI: 10.1182/blood-2005-02-0807
PMCID: PMC1895203

Genes

SBDS
SDS

Variants

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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