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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Orphanet J Rare Dis
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2020
Gaiak:
Research
Sarrera elektronikoa: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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