
Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies
Keywords: PAX6; missense mutation; ocular anomalies; DNA binding; transactivation; conformationPAX6, paired box gene6; PD, paired domain; HD, homeodomain; PST, proline–serine–threonine rich; TAD, transactivation domain; PAI, N-terminal subdomain of the paired domai