Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.03.067
Abstract: The genetic defects of a 12-year-old patient with factor XIII deficiency (FXIIID) and eight pedigree members suspected with FXIIID were studied. Clinical diagnosis, pedigree investigation, phenotypic study and genetic analysis were performed. DNA sequence analysis… read more here.
Keywords: novel; factor xiii; f13a1; nbeal2 gene ... See more keywords
Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Applied Thrombosis/Hemostasis"
DOI: 10.1177/1076029617750487
Abstract: Mutations of hemostasis/coagulation-related genes have been speculated to cause recurrent spontaneous abortion (RSA). This study investigated the genetic association between the polymorphisms of factor V (F5), factor II (F2), antithrombin (SERPINC1), protein C (PROC), protein… read more here.
Keywords: recurrent spontaneous; spontaneous abortion; proz; han women ... See more keywords