Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

Marfan syndrome (MFS) is a rare connective tissue disorder mainly due to mutations in the FBN1 gene. Great phenotypic variability is notable for age of onset, the presence and absence, and the number and the severity of the symptoms. Our team showed that FBN1 gene expression level was a good surroga...

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Detalles Bibliográficos
Autores principales: Benarroch, Louise, Aubart, Mélodie, Gross, Marie-Sylvie, Arnaud, Pauline, Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409622/
https://www.ncbi.nlm.nih.gov/pubmed/30754709
http://dx.doi.org/10.3390/genes10020128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409622/
https://www.ncbi.nlm.nih.gov/pubmed/30754709
http://dx.doi.org/10.3390/genes10020128

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