Lysinuric protein intolerance and HOIP deficiency in a boy with homozygous missense mutation in the RNF31 gene and homozygous deletion of SLC7A7 gene


ALİYEVA L., ERDÖL Ş. , GÖRÜKMEZ O., GÜRKAN H., KARALI Y., BAYTAN B., ...More

Erciyes Tıp Genetik Günleri, Kayseri, Turkey, 7 - 10 March 2018

  • Publication Type: Conference Paper / Summary Text
  • City: Kayseri
  • Country: Turkey