[Analysis of PAX6 gene in a Chinese family with congenital aniridia].
Li PC, Yao Q, Ren X, Zhang MC, Li H, Liu JY, Sheng SY, Wang Q, Liu MG.
Li PC, et al.
Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):931-4.
Zhonghua Yan Ke Za Zhi. 2009.
PMID: 20137456
Chinese.
This mutation cause the 301st amino acids codon switch from CAA to TAA and the codogenic amino acids altered from glutamine glutaminic acid to strong terminal codon. This mutation is also detected in all 11 patients of this family, but not present in the unaffected members …
This mutation cause the 301st amino acids codon switch from CAA to TAA and the codogenic amino acids altered from glutamine glutamini …