Table 2

Detection and characterisation of new DNA sequence variants in the human PAX4 gene

FragmentNucleotide position2-150Allele frequency (chromosomes)
ControlsSRS patients
Exon 4nt29366G>A0/561/88
(G149G)
Exon 9nt26663G>T15/10618/88
(P321P)
3′UTRnt26382C>T10/6628/100
nt26112A>G11/1443/66
  • 2-150 Nucleotide positions based on cosmid g1572c264 (AC000359).