Search results
Results from the WOW.Com Content Network
Pathophysiology of factor V Leiden gene mutation. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C.
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
Heterozygous factor V Leiden is present in approximately 5% of the white population in the United States and homozygous factor V Leiden is found less than 1% of this population. [27] Factor V Leiden is much more common in individuals of Northern European descent and in some Middle Eastern populations.
However, people with homozygous factor V Leiden, and people with heterozygous factor V Leiden who have an additional thrombophilic condition (e.g., antithrombin deficiency, protein C deficiency, or protein S deficiency), should be considered for lifelong oral anticoagulation therapy. [17]
The exact prevalence of protein S deficiency in the population is unknown; it is found 1.3–5% of people with thrombosis. [14] The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
The sounds of sobbing, prayers and anguish echoed through the departures hall of an airport in southwestern South Korea on Monday as families of the victims aboard a passenger jet that crash ...
Congenital dysfibrinogenemia is most often caused by a single autosomal dominant missense mutation in the Aα, Bβ, or γ gene; rarely, it is caused by a homozygous or compound heterozygous missense mutation, a deletion, frameshift mutation, insert mutation, or splice site mutation in one of these genes.