Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.

Abstract excerpt

Recessive dystrophic epidermolysis bullosa (R-DEB) is caused by mutations in the COL7A1 gene. The most common mutation reported in Mexican families is the c.2470insG mutation, normally detected by DNA sequencing. We report a faster and more economical high-throughput genotyping method to detect the c.2470insG mutation using specific TaqMan probes in a real-time polymerase chain reaction (RT-PCR) that facilitates...

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