Lanean...
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...
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2017
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| Gaiak: | |
| Sarrera elektronikoa: | 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 |
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