Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0034065 (
pulmonary embolism
)
14,979
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have identified a novel heterozygous
fibrinogen gamma chain
mutation, gammaN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with
pulmonary embolism
. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.
...
PMID:Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation. 1636 37
