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[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Jun 10; Vol. 36 (6), pp. 616-619. - Publication Year :
- 2019
-
Abstract
- Objective: To identify mutation of the PAX6 gene in a patient with congenital aniridia.<br />Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.<br />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.<br />Conclusion: A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 36
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31055820
- Full Text :
- https://doi.org/10.3760/cma.j.issn.1003-9406.2019.06.022