Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

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Summary, etc.：: This study aimed to evaluate retinal structure in the early stage of Leber's congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients fro...

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Material Type: 博士論文
Title: Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
Author/Editor: 宮道, 大督
Author Heading: 宮道, 大督
Publication, Distribution, etc.: Nature Publishing Group
Publication Date: 2019-06-27
Publication Date (W3CDTF): 2019-06-27
Alternative Title: RPGRIP1遺伝子変異によるレーバー先天盲の網膜構造
Periodical title: Human genome variation
No. or year of volume/issue: 6
Volume: 6
Pages: 32-
ISSN (Periodical Title): EISSN : 2054-345X
Degree grantor/type: 浜松医科大学
Date Granted: 2020-02-13
Dissertation Number: 乙第568号
Degree Type: 博士（医学）
Text Language Code: eng
Subject Heading: Genetic testing
Targeted gene repair
Target Audience: 一般
Note (General): doctoral
医学系研究科
Format (IMT): application/pdf
Source: 論文本文（fulltext）
https://hama-med.repo.nii.ac.jp/record/3589/files/DT_ron568ronbun.pdf
Access Restrictions: インターネット公開
Related Material (DOI): 10.1038/s41439-019-0064-8
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 浜松医科大学 : 浜松医科大学学術機関リポジトリ