Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.
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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