PUBLICATION
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
- Authors
- Ikeda, F., Yoshida, K., Toki, T., Uechi, T., Ishida, S., Nakajima, Y., Sasahara, Y., Okuno, Y., Kanezaki, R., Terui, K., Kamio, T., Kobayashi, A., Fujita, T., Sato-Otsubo, A., Shiraishi, Y., Tanaka, H., Chiba, K., Muramatsu, H., Kanno, H., Ohga, S., Ohara, A., Kojima, S., Kenmochi, N., Miyano, S., Ogawa, S., Ito, E.
- ID
- ZDB-PUB-180807-13
- Date
- 2017
- Source
- Haematologica 102: e93-e96 (Journal)
- Registered Authors
- Kenmochi, Naoya, Uechi, Tamayo
- Keywords
- none
- MeSH Terms
-
- Adult
- Alternative Splicing
- Anemia, Diamond-Blackfan/genetics*
- Anemia, Diamond-Blackfan/metabolism
- Anemia, Diamond-Blackfan/pathology
- Animals
- CRISPR-Cas Systems
- Cell Proliferation
- Child, Preschool
- Embryo, Nonmammalian
- Exome*
- Exome Sequencing
- Exons
- Female
- Gene Editing
- Gene Expression
- Haploinsufficiency*
- Humans
- Infant
- K562 Cells
- Pedigree
- Point Mutation*
- RNA, Ribosomal, 18S/genetics*
- RNA, Ribosomal, 18S/metabolism
- Ribosomal Proteins/deficiency
- Ribosomal Proteins/genetics*
- Siblings
- Zebrafish
- PubMed
- 27909223 Full text @ Haematologica
Citation
Ikeda, F., Yoshida, K., Toki, T., Uechi, T., Ishida, S., Nakajima, Y., Sasahara, Y., Okuno, Y., Kanezaki, R., Terui, K., Kamio, T., Kobayashi, A., Fujita, T., Sato-Otsubo, A., Shiraishi, Y., Tanaka, H., Chiba, K., Muramatsu, H., Kanno, H., Ohga, S., Ohara, A., Kojima, S., Kenmochi, N., Miyano, S., Ogawa, S., Ito, E. (2017) Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.. Haematologica. 102:e93-e96.
Abstract
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping