Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
By: Gaboon, Najwa E. A.; Safdar, Usamah Y.; Shaik, Jilani P.…[et al.]. Saudi Journal of Biological Sciences. Vol. 27, no. 1 (Jan. 2020), pp.324-334, 11 p.
Subjects: Deafness; Diagnosis; Kidney failure; Metabolic disorders; Patients