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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genes (Basel)
Prif Awduron: Benarroch, Louise, Aubart, Mélodie, Gross, Marie-Sylvie, Arnaud, Pauline, Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6409622/
https://ncbi.nlm.nih.gov/pubmed/30754709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10020128
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