Cargando…
A common pathomechanism in GMAP-210– and LBR-related diseases
Biallelic loss-of-function mutations in TRIP11, encoding the golgin GMAP-210, cause the lethal human chondrodysplasia achondrogenesis 1A (ACG1A). We now find that a homozygous splice-site mutation of the lamin B receptor (LBR) gene results in the same phenotype. Intrigued by the genetic heterogeneit...
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328090/ https://www.ncbi.nlm.nih.gov/pubmed/30518689 http://dx.doi.org/10.1172/jci.insight.121150 |