@article{1b1bfdcfab5f4bf7bf6d7be545ef9393,
title = "Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia",
abstract = "Objective: To identify mutation of the PAX6 gene in a case with congenital aniridia. Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. Results: The proband was found to harbor a heterozygous c. 239T>A (p. Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.",
keywords = "Congenital aniridia, Mutation, PAX6 gene",
author = "Chuan Zhang and Shengju Hao and Qinghua Zhang and Bingbo Zhou and Furong Liu and Xiaojuan Lin and Yousheng Yan",
note = "Publisher Copyright: {\textcopyright} 2019 West China University of Medical Sciences. All rights reserved.",
year = "2019",
month = jun,
doi = "10.3760/cma.j.issn.1003-9406.2019.06.022",
language = "英语",
volume = "36",
pages = "616--619",
journal = "Chinese Journal of Medical Genetics",
issn = "1003-9406",
publisher = "Chinese Medical Journals Publishing House Co.Ltd",
number = "6",
}