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Results 1 - 10 of 55 for Factor V deficiency
  1. ... 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 ...
  2. ... 1152/physrev.00016.2010. Citation on PubMed Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost. 2013 Sep;39( ...
  3. ... 1152/physrev.00016.2010. Citation on PubMed Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost. 2013 Sep;39( ...
  4. ... 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 ...
  5. ... 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- ...
  6. ... 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 ...
  7. ... 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. ...
  8. ... adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB ... deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci ...
  9. ... Richards CS. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. ... 20210 mutation (factor II mutation). Circulation. 2004 Jul 20;110(3): ...
  10. ... nonfunctional version of the protein. The resulting shortage (deficiency) of complement factor H overactivates the complement system, which damages structures ...
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