The β‐Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia
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DOI: 10.1002/jcla.25123
Abstract: Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three‐month‐old female infant. read more here.
Keywords: mutation arg17stop; chain mutation; nonsense mutation; mutation ... See more keywords