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

• Goknur Haliloglu

• Kerstin Becker

• Cagri Temucin

• Beril Talim

• Nalan Kucuksahin

• Matthias Pergande

• Susanne Motameny

• Peter Nurnberg

• Ustun Aydingoz

• Haluk Topaloglu

• Sebahattin Cirak

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 62 (4), 497-501, 2017-04

  Tokyo : Springer Nature

詳細情報

• CRID: 1523669554842180096
• NII論文ID: 40021158307
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 028099970
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I028099970
• Web Site: https://search.jamas.or.jp/link/ui/2017381187
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS16(科学技術--医学--人類遺伝学)
• データソース種別:
  • NDL
  • CiNii Articles