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
  • Bursa Uludag University Affiliated: Yes