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Updated: May 10, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Congenital hypofibrinogenemia with a novel mutation BβCys76Phe

Motoki Sugasaki1, Shingen Nakamura2, Shinpei Arai3

  • 1Department of Medical Technology, Tokushima University Hospital, Tokushima, Japan.

The Journal of Medical Investigation : JMI
|April 23, 2025
PubMed
Summary

Researchers identified a novel genetic mutation in the fibrinogen Bβ-chain in a patient with unexplained low fibrinogen activity and antigen levels, suggesting a new cause for this condition.

Keywords:
Bβ chaincongenital hypofibrinogenemiacysteine mutation

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