Article
A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.
Genetics and molecular research : GMR - 27 Oct 2014
Cao X, Zhou X M, Gan R, Jiang L Q, Lu L, Wang Y, Fan N, Yin Y, Yan N H, Yu W H, Liu X Y
Abstract excerpt
Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins' father presented...
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