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...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Wehrle, Anika, Witkos, Tomasz M., Schneider, Judith C., Hoppmann, Anselm, Behringer, Sidney, Köttgen, Anna, Elting, Mariet, Spranger, Jürgen, Lowe, Martin, Lausch, Ekkehart
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6328090/
https://ncbi.nlm.nih.gov/pubmed/30518689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.121150
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