Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Ulzi, Gianna
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. [electronic resource] - Journal of the neurological sciences Jul 2012 - 65-71 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1878-5883
10.1016/j.jns.2012.03.024 doi
Adolescent
Adult
Aged
Cell Line
Cell Membrane--genetics
Child
Chloride Channels--genetics
Electric Conductivity
Female
Genetic Predisposition to Disease--genetics
Humans
Italy
Male
Middle Aged
Mutation, Missense--genetics
Myotonia Congenita--genetics
Patch-Clamp Techniques
Young Adult
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. [electronic resource] - Journal of the neurological sciences Jul 2012 - 65-71 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1878-5883
10.1016/j.jns.2012.03.024 doi
Adolescent
Adult
Aged
Cell Line
Cell Membrane--genetics
Child
Chloride Channels--genetics
Electric Conductivity
Female
Genetic Predisposition to Disease--genetics
Humans
Italy
Male
Middle Aged
Mutation, Missense--genetics
Myotonia Congenita--genetics
Patch-Clamp Techniques
Young Adult