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Article

Mutations in the SBDS gene in acquired aplastic anemia.

Blood - 15 Aug 2007

Calado Rodrigo T, Graf Solomon A, Wilkerson Keisha L, Kajigaya Sachiko, Ancliff Philip J, Dror Yigal, Chanock Stephen J, Lansdorp Peter M, Young Neal S

Abstract excerpt

Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function. Here we report heterozygosity for the 258 + 2 T>C SBDS gene mutation previously identified in SDS patients in 4 of 91 patients with apparently acquired aplastic anemia (AA) but not in 276 ethnically matched controls (Fisher...

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Source

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Identifiers

PMID: 17478638
DOI: 10.1182/blood-2007-03-080044
PMCID: PMC1939897

Genes

SBDS
SDS
TERT

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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