Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
Titel:
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
Auteur:
Gaboon, Nagwa E.A. Banaganapalli, Babajan Nasser, Khalidah Razeeth, Mohammed Alsaedi, Mosab S. Rashidi, Omran M. Abdelwehab, Lereen S. Alahmadi, Turki Saad Safdar, Osama Y. Shaik, Jilani Choudhry, Hani M.Z. Al-numan, Huda Husain Khan, Mohammad Imran Al-Aama, Jumana Y. Elango, Ramu Shaik, Noor A.