Table 1 Characteristics of mutations found from Finnish variegate porphyria patients
Location | Mutation | Outcome | cDNA | Mutation-specific Restriction Enzyme |
|---|---|---|---|---|
Exon 2 | 78insC | Frameshift | + | – |
IVS 2 | IVS2-2 a→c | 34 bp retention of intron 2 | + | BstNI |
Exon 4 | 338G→C | Deletion of exon 4 | + | Bsu36I |
Exon 5 | 454C→T | R152C | + | HhaI |
Exon 5 | 470A→C | Deletion of exon 5 and 19 bp retention of intron 5 | + | Bsu36I |
Exon 11 | 1203A→C | L401F | ND | − |