A carregar...
Juvenile-onset Generalized Lipodystrophy due to a Novel Heterozygous Missense LMNA Mutation Affecting Lamin C
The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy and cardiomyopathy, only three families with mutations in lamin C-s...
Na minha lista:
| Publicado no: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5593256/ https://ncbi.nlm.nih.gov/pubmed/28686329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38341 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|