Research ArticleGENETIC DISORDERS
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A
- Sarah J. Hatsell1,*,
- Vincent Idone1,*,
- Dana M. Alessi Wolken1,†,
- Lily Huang1,†,
- Hyon J. Kim1,†,
- Lili Wang1,
- Xialing Wen1,
- Kalyan C. Nannuru1,
- Johanna Jimenez1,
- Liqin Xie1,
- Nanditha Das1,
- Genevieve Makhoul1,
- Rostislav Chernomorsky1,
- David D’Ambrosio1,
- Richard A. Corpina1,
- Christopher J. Schoenherr1,
- Kieran Feeley1,‡,
- Paul B. Yu2,
- George D. Yancopoulos1,
- Andrew J. Murphy1 and
- Aris N. Economides1,3,§
- 1Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
- 2Brigham and Women’s Hospital, 20 Shattuck Street, Thorn Biosciences 1203, Boston, MA 02115, USA.
- 3Regeneron Genetics Center Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
- ↵§Corresponding author. E-mail: aris{at}regeneron.com
↵* These authors contributed equally as first authors.
↵† These authors contributed equally as second authors.
↵‡ Present address: Ohio State University College of Medicine, 370 West 9th Avenue, Columbus, OH 43210, USA.
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Science Translational Medicine 02 Sep 2015:
Vol. 7, Issue 303, pp. 303ra137
DOI: 10.1126/scitranslmed.aac4358
