Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A→G Splice-Donor–Site Mutation at Position +3 of the Collagenlike-Tail–Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing?

• Kinji Ohno

• Joan M. Brengman

• Kevin J. Felice

• David R. Cornblath

• Andrew G. Engel

収録刊行物

• The American Journal of Human Genetics

  The American Journal of Human Genetics 65 (3), 635-644, 1999-09

  Elsevier BV

キーワード

• Genetics (clinical)
• Genetics

詳細情報

• CRID: 1361699996369427968
• NII論文ID: 30017636619
• DOI: 10.1086/302551
• ISSN: 00029297
• Web Site: https://api.elsevier.com/content/article/PII:S0002929707623143?httpAccept=text/xml
• Web Site: https://api.elsevier.com/content/article/PII:S0002929707623143?httpAccept=text/plain
• データソース種別:
  • Crossref
  • CiNii Articles