Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
Todd
D J
DJ
Department of Medical Genetics, Queen's University of Belfast, UK.
Hughes
A E
AE
Ennis
K T
KT
Ward
A J
AJ
Burrows
D
D
Nevin
N C
NC
D001483:Base Sequence; D002648:Child; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005294:Ferrochelatase / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D017092:Porphyria, Erythropoietic / Q000201:enzymology* / Q000235:genetics*; D017384:Sequence Deletion
D018076:DNA, Complementary; D005294:Ferrochelatase