title: Diagnosis of variegate porphyria at birth by demonstration of the R59W mutation.
authors.forename: C
authors.initials: C
authors.lastname: Pretorius
authors.forename: J J
authors.initials: JJ
authors.lastname: du Toit
authors.forename: J C
authors.initials: JC
authors.lastname: du Preez
authors.forename: P N
authors.initials: PN
authors.lastname: Meissner
mesh_terms: 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
chemical_list: D004247:DNA