A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome

We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA). We analysed the nuclear morphology and laminar...

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Detalles Bibliográficos
Autores principales: Wang, Zhe, Dong, Yueting, Yang, Jing, He, Yingzi, Lin, Xihua, Wu, Fang, Li, Hong, Zheng, Fenping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768263/
https://www.ncbi.nlm.nih.gov/pubmed/31293201
http://dx.doi.org/10.1080/21623945.2019.1640007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768263/
https://www.ncbi.nlm.nih.gov/pubmed/31293201
http://dx.doi.org/10.1080/21623945.2019.1640007

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