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Article

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

PloS one - 9 Jul 2009

Martinez Barrio Alvaro, Eriksson Oskar, Badhai Jitendra, Fröjmark Anne-Sophie, Bongcam-Rudloff Erik, Dahl Niklas, Schuster Jens

Abstract excerpt

BACKGROUND: The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). Mutations in RPS19 coding sequences have been found in 25% of DBA patients, but not in TEC patients. It has been suggested that non-coding RPS19 sequence variants contribute to the considerable clinical variability in red cell...

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Topics

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

Share to Chromosomes, Human, Pair 18

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Share to Promoter Regions, Genetic

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Share to Sequence Homology, Nucleic Acid

Source

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Identifiers

PMID: 19587786
DOI: 10.1371/journal.pone.0006172
PMCID: PMC2703794

Genes

RPS19
TEC

Provenance

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