SI.No | Mutation change | Expt Name | PubMed | ||
1 | Substitutions | Genomic: g.2079C>T CDS: c.241C>T AnimoAcid: p.Gln81X |
Substitutions | Direct sequencing |
Ferrari S et al., 2007 |
2 | Substitutions | Genomic: g.2250G>C CDS: c.412G>C AnimoAcid: p.Gly138Ser |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Dobbs AK et al., 2007 |