Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

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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）

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Material type: 博士論文

Author: 清水, 日智

Publisher: Springer Nature

Publication date: 2020-03-19

Material Format: Digital

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Name of awarding university/degree: Nagasaki University (長崎大学),博士(医学)

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Note (General)：: 長崎大学学位論文学位記番号:博(医歯薬)甲第1200号学位授与年月日:令和2年3月19日Author: Hitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, Hiroyuki Mishima, Gen Nishimura, Hiroyuki Mor...

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Material Type: 博士論文
Title: Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
Author/Editor: 清水, 日智
Author Heading: 清水, 日智
Publication, Distribution, etc.: Springer Nature
Publication Date: 2020-03-19
Publication Date (W3CDTF): 2020-03-19
Alternative Title: RFLNA遺伝子のフレームシフト変異をホモ接合性に認めた典型的な脊椎手根骨足根骨癒合症の一例
Periodical title: Journal of Human Genetics
No. or year of volume/issue: 64 5
Volume: 64
Issue: 5
Pages: 467-471
ISSN (Periodical Title): ISSN : 14345161
ISSN : 1435232X
Degree grantor/type: Nagasaki University (長崎大学)
Date Granted: 2020-03-19
Dissertation Number: 甲医歯薬第1200号
Degree Type: 博士(医学)
Text Language Code: eng
Target Audience: 一般
Note (General): 長崎大学学位論文学位記番号:博(医歯薬)甲第1200号学位授与年月日:令和2年3月19日
Author: Hitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, Hiroyuki Mishima, Gen Nishimura, Hiroyuki Moriuchi, Koh-ichiro Yoshiura & Sumito Dateki
Citation: Journal of Human Genetics, 64(5), pp.467-471, 2019
Nagasaki University (長崎大学), 博士(医学) (2020-03-19)
Format (IMT): application/pdf
Source: ISYK1200_Shimizu.pdf （fulltext）
https://nagasaki-u.repo.nii.ac.jp/record/542/files/ISYK1200_Shimizu.pdf
Access Restrictions: インターネット公開
Rights (production): c 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
Related Material (URI): HDL
http://hdl.handle.net/10069/39709
Related Material (DOI): 10.1038/s10038-019-0581-9
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): 長崎大学 : 長崎大学学術研究成果リポジトリ