De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles
Elisa
E
Quelhas
Dulce
D
Vilarinho
Laura
L
Jaeken
Jaak
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D009154:Mutation / Q000235:genetics; D006180:Proton-Translocating ATPases / Q000235:genetics*; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics; D013577:Syndrome; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase
D006180:Proton-Translocating ATPases; D011762:Pyrroline Carboxylate Reductases; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase; C525845:ATP6V0A2 protein, human