A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

Authors

George G. Schweitzer, Washington University School of Medicine in St. Louis
Connie Gan, Washington University School of Medicine in St. Louis
Robert C. Bucelli, Washington University School of Medicine in St. Louis
Daniel Wegner, Washington University School of Medicine in St. Louis
Robert E. Schmidt, Washington University School of Medicine in St. Louis
Marwan Shinawi, Washington University School of Medicine in St. Louis
Brian N. Finck, Washington University School of Medicine in St. Louis
Rita T. Brookheart, Washington University School of Medicine in St. Louis

Journal

Molecular Genetics & Genomic Medicine

Publication Date

2019

Volume

7

Inclusive Pages

e733

Document Type

Open Access Publication

DOI

10.1002/mgg3.733

Rights and Permissions

Schweitzer, GG, Gan, C, Bucelli, RC, et al. A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Mol Genet Genomic Med. 2019; 7:e733. https://doi.org/10.1002/mgg3.733 © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

Recommended Citation

Schweitzer, George G.; Gan, Connie; Bucelli, Robert C.; Wegner, Daniel; Schmidt, Robert E.; Shinawi, Marwan; Finck, Brian N.; and Brookheart, Rita T., "A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema." Molecular Genetics & Genomic Medicine. 7, e733. (2019).
https://digitalcommons.wustl.edu/open_access_pubs/7949