Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy

Chin Med J (Engl). 2019 Jan 5;132(1):92-95. doi: 10.1097/CM9.0000000000000027.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Congenital / etiology*
  • Anemia, Hemolytic, Congenital / genetics*
  • Asian People
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Pyruvate Kinase / genetics*

Substances

  • PKLR protein, human
  • Pyruvate Kinase