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Article

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Nature genetics - 1 Jan 2003

Boocock Graeme R B, Morrison Jodi A, Popovic Maja, Richards Nicole, Ellis Lynda, Durie Peter R, Rommens Johanna M

Abstract excerpt

Shwachman-Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction and skeletal abnormalities. Here, we report identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 previously shown to be associated with the disease. We report that SBDS has a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12496757
DOI: 10.1038/ng1062

Genes

SBDS
SDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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