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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

BACKGROUND: Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotyp...

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Detalles Bibliográficos
Autores principales:	Tjeldhorn, Lena, Amundsen, Silja Svanstrøm, Barøy, Tuva, Rand-Hendriksen, Svend, Geiran, Odd, Frengen, Eirik, Paus, Benedicte
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683784/ https://www.ncbi.nlm.nih.gov/pubmed/26684006 http://dx.doi.org/10.1186/s12881-015-0260-4

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