Diagnosis of variegate porphyria at birth by demonstration of the R59W mutation.
Pretorius
C
C
du Toit
J J
JJ
du Preez
J C
JC
Meissner
P N
PN
D002648:Child; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017094:Porphyrias, Hepatic / Q000151:congenital / Q000175:diagnosis* / Q000517:prevention & control; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis
D004247:DNA