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Factor V deficiency
- ... found to cause a rare bleeding disorder called factor V deficiency. These variants prevent the production of functional coagulation ... episodes of abnormal bleeding that can be severe. Factor V deficiency results from variants in both copies of the ...
- ... 1152/physrev.00016.2010. Citation on PubMed Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost. 2013 Sep;39( ...
- ... 1152/physrev.00016.2010. Citation on PubMed Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost. 2013 Sep;39( ...
- ... 1 UNQ3037 Tests of SUMF1 PubMed SULFATASE-MODIFYING FACTOR 1; SUMF1 NCBI Gene ClinVar Annunziata I, Bouche V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 ...
- ... I; CFI NCBI Gene ClinVar Baracho GV, Nudelman V, Isaac L. Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003 Feb;131(2):280- ...
- ... called factor V.) APC then works with factor V to inactivate factor VIIIa. At least 270 mutations in the PROC gene have been found to cause protein C deficiency. Most of these mutations change single protein building ...
- ... HH6 KAL6 Tests of FGF8 ... SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. ...
- ... Richards CS. Technical standards and guidelines: venous thromboembolism (Factor ... Prothrombin deficiency results in embryonic and neonatal lethality in mice. ...
- ... adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB ... deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci ...
- ... nonfunctional version of the protein. The resulting shortage (deficiency) of complement factor H overactivates the complement system, which damages structures ...