Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Journal name: Journal of human genetics / Japan Society of Human Genetics 62(4):2017.4

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Material Type: 記事
Title: Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
Author/Editor: Goknur Haliloglu
Kerstin Becker
Cagri Temucin
Beril Talim
Nalan Kucuksahin
Matthias Pergande
Susanne Motameny
Peter Nurnberg
Ustun Aydingoz
Haluk Topaloglu
Sebahattin Cirak
Author Heading: Goknur Haliloglu
Kerstin Becker
Cagri Temucin
Beril Talim
Nalan Kucuksahin
Matthias Pergande
Susanne Motameny
Peter Nurnberg
Ustun Aydingoz
Haluk Topaloglu
Sebahattin Cirak
Periodical title: Journal of human genetics / Japan Society of Human Genetics
No. or year of volume/issue: 62(4):2017.4
Volume: 62
Issue: 4
Pages: 497-501
Publication date of volume/issue (W3CDTF): 2017-04
ISSN (Periodical Title): 1434-5161
Publication (Periodical Title): Tokyo : Springer Nature
Place of Publication (Country Code): JP
Text Language Code: eng
NDLC: ZS16
Target Audience: 一般
Holding library: 国立国会図書館
Call No.: Z54-H248
Data Provider (Database): 国立国会図書館 : 国立国会図書館雑誌記事索引
https://ndlsearch.ndl.go.jp
Bibliographic ID (NDL): 028099970
http://id.ndl.go.jp/bib/028099970
Bibliographic Record Category (NDL): 632