博士論文

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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DOI[info:doi/10.1038/s10038-019-0581-9]to the data of the same series

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

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
Capacity, size, etc.
-
Name of awarding university/degree
Nagasaki University (長崎大学),博士(医学)
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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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Digital

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