[Hepatic involvement in a female carrier heterozygous for a mutation in the PHKA2 gene]

An Pediatr (Barc). 2016 Nov;85(5):267-268. doi: 10.1016/j.anpedi.2016.02.004. Epub 2016 Apr 20.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Infant
  • Liver Diseases / genetics*
  • Mutation*
  • Phosphorylase Kinase / genetics*

Substances

  • PHKA2 protein, human
  • Phosphorylase Kinase