Rosen, Samantha M

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. [electronic resource] - Human molecular genetics 07 2020 - 1996-2003 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddaa035 doi


Actins--metabolism
Animals
Cofilin 2--genetics
Disease Models, Animal
Gene Knock-In Techniques
Genetic Predisposition to Disease
Humans
Mice
Mice, Knockout
Microfilament Proteins--genetics
Muscle, Skeletal--metabolism
Muscular Diseases--genetics
Mutation--genetics
Phenotype
RNA, Messenger--genetics