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| Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong |
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Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4. Published online November 30, 2016 DOI: https://doi.org/10.3345/kjp.2016.59.11.S1 |
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A nonsensePAX6mutation in a family with congenital aniridia Korean Journal of Pediatrics. 2016;59(Suppl 1):S1  PAX6mutation in a family with aniridia, congenital ptosis, and mental retardation Clinical Genetics. 2001;60(2):151-154 Nonsense suppression induced readthrough of a novel
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mutation in patient‐derived cells of congenital aniridia Molecular Genetics & Genomic Medicine. 2020;8(5): Trp156Ter mutation in the PAX6 gene in a family with aniridia Human Mutation. 1998;11(S1):S326-S326 Novel clinical presentation and PAX6 mutation in families with congenital aniridia Frontiers in Medicine. 2022;9: Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia Human Mutation. 1999;14(3):272-273 A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia Genetic Testing and Molecular Biomarkers. 2019;23(7):495-500 Mutation Analysis of <i>PAX6</i> in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia Ophthalmic Research. 2011;47(1):27-31 A Novel 4.25kb Deletion in PAX6 in A Chinese Han Family with Congenital Aniridia Combined with Cataract and Nystagmus . 2021; A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia Graefe's Archive for Clinical and Experimental Ophthalmology. 2000;238(7):552-558 |
