ZFIN ID: ZDB-PUB-180807-13
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
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.
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*
  • 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
  • Whole Exome Sequencing
  • Zebrafish
PubMed: 27909223 Full text @ Haematologica
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