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

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作者： Roland,Stengl ^[1] ; András,Bors ^[2] ; Bence,Ágg ^[3] ; Miklós,Pólos ^[4] ; Gabor,Matyas ^[5] ; Mária Judit,Molnár ^[6] ; Bálint,Fekete ^[7] ; Dóra,Csabán ^[5] ; Hajnalka,Andrikovics ^[6] ; Béla,Merkely ^[8] ; Tamás,Radovits ^[9] ; Zoltán,Szabolcs ^[9] ; Kálmán,Benke ^[9]

作者单位： Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary. rolandstengl01@gmail.com. ^[1] Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary. rolandstengl01@gmail.com. ^[2] Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary. rolandstengl01@gmail.com. ^[3] Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary. ^[4] Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary. ^[5] Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary. ^[6] Department of Pharmacology and Pharmacotherapy, Semmelweis University, Üllői út 26, Budapest, 1085, Hungary. ^[7] Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People With Rare Diseases, Wagistrasse 25, 8952, Schlieren, Zurich, Switzerland. ^[8] Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, Budapest, 1083, Hungary. ^[9]

关键词 Aortic involvement Cardiac surgery FBN1 Gene panel Genetic testing MLPA Marfan syndrome Next-generation sequencing Risk stratification

主题词主动脉(Aorta);基因型(Genotype);人类(Humans);Loeys-Dietz综合征(Loeys-Dietz Syndrome);马凡综合征(Marfan Syndrome);突变(Mutation)

DOI 10.1186/s13023-020-01569-4

PMID 33059708

发布时间 2021-06-18

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准确一般字义偏差语意偏离译文作用小提交