A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 183917603 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Lee%2C+Hane%22">Lee, Hane</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Moon%2C+Dongseok%22">Moon, Dongseok</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Khang%2C+Rin%22">Khang, Rin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Seo%2C+Go+Hun%22">Seo, Go Hun</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yoon%2C+Chang+Ki%22">Yoon, Chang Ki</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Park%2C+Un+Chul%22">Park, Un Chul</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Park%2C+Kyu+Hyung%22">Park, Kyu Hyung</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> jiani4@snu.ac.kr</i><br /><searchLink fieldCode="AR" term="%22Lee%2C+Eun+Kyoung%22">Lee, Eun Kyoung</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> right184@snu.ac.kr</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Jan2025, Vol. 13 Issue 1, p1-6. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183917603 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.70060 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 1 Titles: – TitleFull: A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lee, Hane – PersonEntity: Name: NameFull: Moon, Dongseok – PersonEntity: Name: NameFull: Khang, Rin – PersonEntity: Name: NameFull: Seo, Go Hun – PersonEntity: Name: NameFull: Yoon, Chang Ki – PersonEntity: Name: NameFull: Park, Un Chul – PersonEntity: Name: NameFull: Park, Kyu Hyung – PersonEntity: Name: NameFull: Lee, Eun Kyoung IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 13 – Type: issue Value: 1 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
| ResultId | 1 |
