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Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical V...

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical V...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6409622

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

About this item

Full title

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

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2019-02, Vol.10 (2), p.128

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Marfan syndrome (MFS) is a rare connective tissue disorder mainly due to mutations in the
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
gene expression level was a good surrogate endpoint for severity of some MFS clinical features...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6409622

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6409622

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes10020128

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