Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, Ashley Cannon, Yazmin Enchautegui Colon, Adolfo D. Garnica, Margaret H. Harr, Sandra Heck, Anna C. Hurst, Shalini N. Jhangiani, Bertrand Isidor, Rebecca O. Littlejohn, Pengfei Liu, Pilar MagoulasHelen Mar Fan, Ronit Marom, Scott McLean, Marjan M. Nezarati, Kimberly M. Nugent, Michael B. Petersen, Maria Linda Rocha, Elizabeth Roeder, Robert Smigiel, Ian Tully, James Weisfeld-Adams, Katerina O. Wells, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, James R. Lupski, Arthur L. Beaudet, Michael F. Wangler

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

6 Citationer (Scopus)
30 Downloads (Pure)
OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind41
Udgave nummer3
Sider (fra-til)641-654
Antal sider14
ISSN1059-7794
DOI
StatusUdgivet - mar. 2020

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