Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

BACKGROUND: Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations of the FBN1 gene. Our aim was to identify mutations of MFS patients with high de...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Matyas, Gabor, Molnár, Mária Judit, Fekete, Bálint, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7558671/
https://ncbi.nlm.nih.gov/pubmed/33059708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01569-4
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