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Article

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.

British journal of haematology - 1 Apr 2004

Orfali Karen A, Ohene-Abuakwa Yaw, Ball Sarah E

Abstract excerpt

A detailed family study was undertaken of patients notified to the UK Diamond Blackfan Anaemia (DBA) Registry. RPS19 mutations were detected in 16 of 104 families, including two patients with deletions detected by intragenic loss of heterozygosity of tightly linked polymorphisms. In two further c...

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Source

Identifiers

PMID: 15059149
DOI: 10.1111/j.1365-2141.2004.04890.x

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15059149-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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