Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

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学術機関リポジトリデータベース（IRDB）（機関リポジトリ）

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Material type: 博士論文

Author: 立花, 信貴

Publisher: MDPI (Multidisciplinary Digital Publishing Institute)

Publication date: 2022-02-16

Material Format: Digital

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Name of awarding university/degree: 浜松医科大学,博士（医学）

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Note (General)：: doctoral医学系研究科

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Material Type: 博士論文
Title: Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
Author/Editor: 立花, 信貴
Author Heading: 立花, 信貴
Publication, Distribution, etc.: MDPI (Multidisciplinary Digital Publishing Institute)
Publication Date: 2022-02-16
Publication Date (W3CDTF): 2022-02-16
Alternative Title: 網膜ジストロフィ患者における第4と第8染色体の母性片親性イソダイソミー; SRD5A3関連先天性グリコシル化異常症とRP1関連網膜色素変性
Periodical title: Genes
No. or year of volume/issue: 13 2
Volume: 13
Issue: 2
Pages: 359-
ISSN (Periodical Title): EISSN : 2073-4425
Degree grantor/type: 浜松医科大学
Date Granted: 2022-07-22
Dissertation Number: 乙第591号
Degree Type: 博士（医学）
Text Language Code: eng
Subject Heading: uniparental isodisomy
retinal dystrophy
congenital disorders of glycosylation
SRD5A3 gene
RP1-related retinitis pigmentosa
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/4144/files/DT_ron591ronbun.pdf
Access Restrictions: インターネット公開
Rights (production): Copyright 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Related Material (DOI): 10.3390/genes13020359
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