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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.

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Bibliographic Details
Title: A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Authors: Lee, Hane1 (AUTHOR), Moon, Dongseok1 (AUTHOR), Khang, Rin1 (AUTHOR), Seo, Go Hun1 (AUTHOR), Yoon, Chang Ki2 (AUTHOR), Park, Un Chul2 (AUTHOR), Park, Kyu Hyung2 (AUTHOR) jiani4@snu.ac.kr, Lee, Eun Kyoung2 (AUTHOR) right184@snu.ac.kr
Source: Molecular Genetics & Genomic Medicine. Jan2025, Vol. 13 Issue 1, p1-6. 6p.
Database: Academic Search Ultimate
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ISSN:23249269
DOI:10.1002/mgg3.70060