A molecular view of the neurologic porphyrias.
At the present time, the use of molecular techniques for diagnosing the neurologic porphyrias is limited mainly to those laboratories doing research in the area. Because any of four genes may be involved, it is important to confirm the diagnosis in the index case before undertaking molecular investigation. With advances in methodology, it may eventually become possible to test for the many mutations that cause these disorders in a simple, cost-effective manner.
Schreiber
W E
WE
Department of Pathology, University of British Columbia, Vancouver, Canada.
D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D000623:Porphobilinogen Synthase / Q000172:deficiency / Q000235:genetics; D017118:Porphyria, Acute Intermittent / Q000235:genetics; D011164:Porphyrias / Q000235:genetics*; D017094:Porphyrias, Hepatic / Q000235:genetics
D000623:Porphobilinogen Synthase