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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Trans...

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Trans...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6162465

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

About this item

Full title

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Publisher

Switzerland: MDPI

Journal title

Genes, 2018-08, Vol.9 (9), p.421

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed that fibrillin-1 (
) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity. Therefore, an expression quantitative trait loci (eQTL) analysis was performed to identify tran...

Alternative Titles

Full title

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6162465

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6162465

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes9090421

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