Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 64 5

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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 5

Persistent ID (NDL): info:ndljp/pid/11479104

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
ISSN: 1434-5161
Title: Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
Volume: 64 5
Author/Editor: 清水, 日智
Author Heading: 清水, 日智
Publication, Distribution, etc.: Springer Nature
Publication Date: 2020-03-19
64 5
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
Degree grantor/type: Nagasaki University (長崎大学)
Date Granted: 2020-03-19
Date Granted (W3CDTF): 2020-03-19
Dissertation Number: 甲医歯薬第1200号
Degree Type: 博士(医学)
Conferring No. (Dissertation): 甲医歯薬第1200号
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)
DOI: info:doi/10.1038/s10038-019-0581-9
https://doi.org/info:doi/10.1038/s10038-019-0581-9
Persistent ID (NDL): info:ndljp/pid/11479104
https://dl.ndl.go.jp/pid/11479104
Collection: 障害者向け資料
Collection (Materials For Handicapped People:1): テキストデータ
Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
https://dl.ndl.go.jp/collections/A00014
Acquisition Basis: 博士論文（自動収集）
Date Accepted (W3CDTF): 2020-04-06T03:04:11+09:00
Date Created (W3CDTF): 2020-12-18
Format (IMT): PDF
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Related Material (URI): http://hdl.handle.net/10069/39709
Periodical Title (URI): http://hdl.handle.net/10069/39711
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 5

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