Genetics. Mysterious ribosomopathies

Science. 2013 Aug 23;341(6148):849-50. doi: 10.1126/science.1244156.

Abstract

Ribosomes are essential in all cell types, yet mutations to ribosomal proteins or assembly factors cause tissue-specific disease.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Anemia, Diamond-Blackfan / genetics
  • Anemia, Macrocytic / genetics
  • Animals
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Mice
  • Mutation
  • Organ Specificity / genetics
  • Ribosomal Proteins / genetics*
  • Ribosomes / genetics*

Substances

  • Ribosomal Proteins

Supplementary concepts

  • Chromosome 5q Deletion Syndrome