Discover Community Create You

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

A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.

Journal of pediatric hematology/oncology - 1 May 2012

Yazaki Makoto, Kamei Michi, Ito Yasuhiko, Konno Yuki, Wang Runan, Toki Tsutomu, Ito Etsuro

Abstract excerpt

Diamond-Blackfan anemia (DBA) is an inherited bone marrow disease. The condition is characterized by anemia that usually presents during infancy or early childhood and congenital malformation. Several reports show that DBA is associated with mutations in the ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7. Recently, 5 and 12 patients with mutations in RPS10 and RPS26,...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Diamond-Blackfan
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RPS19 gene

Share to Mutation

Share to Ribosomal Proteins

Source

Identifiers

PMID: 22510774
DOI: 10.1097/MPH.0b013e31824a20ab

Genes

RPS10
RPS26
RPL11
RPL5
RPS17
RPS19
RPS24
RPS7

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.PMID 22510774Read ↗

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

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

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

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.Semantic proximity Read ↗

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.Semantic proximity Read ↗

[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].Semantic proximity Read ↗

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.Semantic proximity Read ↗

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

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].Semantic proximity Read ↗

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Semantic proximity Read ↗

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