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Article

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

The Journal of biological chemistry - 13 May 2005

Shammas Camille, Menne Tobias F, Hilcenko Christine, Michell Stephen R, Goyenechea Beatriz, Boocock Graeme R B, Durie Peter R, Rommens Johanna M, Warren Alan J

Abstract excerpt

Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure with significant predisposition to the development of poor prognosis myelodysplasia and leukemia, exocrine pancreatic failure and metaphyseal chondrodysplasia. Although the SBDS gene mutated in this disorder is highly conserved in Archaea and all eukaryotes, the function is unknown. To interpret the molecular...

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Source

Identifiers

PMID: 15701631
DOI: 10.1074/jbc.M414656200

Genes

SBDS
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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