Ontology highlight
ABSTRACT:
SUBMITTER: Nicolas HA
PROVIDER: S-EPMC6523539 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Nicolas Hannah A HA Akimenko Marie-Andrée MA Tesson Frédérique F
Cells 20190329 4
The lamin A/C (<i>LMNA</i>) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. <i>LMNA</i> has 12 exons and alternative splicing of exon 10 results in two major isoforms-lamins A and C. Mutations found throughout the <i>LMNA</i> gene cause a group of diseases collectively known as laminopathies, of which the type, diversity, penetrance and severity of phenotypes can vary from one individual to the other, even between individuals carrying the same mutation. The majo ...[more]