A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome.
D002609:Chediak-Higashi Syndrome / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005978:Glutathione / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D008297:Male; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase; D005978:Glutathione