Table 1.
Population | Analytical methods | Mutations/variants | References |
---|---|---|---|
New Zealand | SSCP and sequencing | 1008G>T in exon 7 | [50] |
Portuguese | PCR-SSCP and sequencing | 1901C>T in exon 12 | [51] |
Chinese | PCR-DHPLC and sequencing | 2253C>T in exon 14 | [52] |
Italian | SSCP, PCR and sequencing | 163+37235G>A variant in intron 2 | [53] |
Korean | PCR, sequencing, and MLPA | 1003C>T in exon 7 | [54] |
SSCP: single stranded conformational polymorphism; PCR: polymerase chain reaction; DHPLC: denaturing high-performance liquid chromatography; MLPA: multiplex ligation-dependent probe amplification.