Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

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

Substances

  • RNA, Ribosomal, 18S
  • RPS15A protein, human
  • Ribosomal Proteins