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Article

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.

Haematologica - 1 Nov 2008

Rey Michelle A, Duffy Simon P, Brown Jennifer K, Kennedy James A, Dick John E, Dror Yigal, Tailor Chetankumar S

Abstract excerpt

BACKGROUND: Diamond-Blackfan anemia is a fatal congenital anemia characterized by a specific disruption in erythroid progenitor cell development. Approximately 25% of patients have mutations in the ribosomal protein RPS19 suggesting that Diamond-Blackfan anemia may be caused by a defect in ribosome biogenesis and translation. However, it is unclear how these defects specifically disrupt early erythropoiesis....

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Share to Anemia, Diamond-Blackfan
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18815190
DOI: 10.3324/haematol.13359

Genes

FLVCR1
RPS19

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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