Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.

Blood cells, molecules & diseases - 1 Apr 2000

Cmejla R, Blafkova J, Stopka T, Zavadil J, Pospisilova D, Mihal V, Petrtylova K, Jelinek J

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell hypoplasia characterized by a selective defect of erythropoiesis with a normochromic macrocytic anemia and reticulocytopenia often accompanied by various congenital anomalies. The critical region responsible for the pathogenesis of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Child, Preschool
Share to Fanconi Anemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Pseudogenes

Share to Ribosomal Proteins

Share to Sequence Alignment

Source

Identifiers

PMID: 10753603
DOI: 10.1006/bcmd.2000.0286

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10753603-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.PMID 10753603Read ↗

RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.Semantic proximity Read ↗

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.Semantic proximity Read ↗

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.Semantic proximity Read ↗

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.Semantic proximity Read ↗

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.Semantic proximity Read ↗

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.Semantic proximity Read ↗

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.Semantic proximity Read ↗

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.Semantic proximity Read ↗

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.