Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?
Spanu
Costel
C
Oltean
Sebastian
S
D058186:Acute Kidney Injury / Q000150:complications*; D000293:Adolescent; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics; D010735:Phosphoglycerate Kinase / Q000172:deficiency*; D012326:RNA Splicing; D012206:Rhabdomyolysis / Q000150:complications*
D010735:Phosphoglycerate Kinase