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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 ...
In fact, Factor V Leiden is the most common cause of inherited thrombosis. [26] 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 an inherited blood clotting disorder. It can cause life-threatening clots in the body and complications during pregnancy. What you need to know about factor V Leiden - a blood ...
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 Trump transition team wants the incoming administration to drop a car-crash reporting requirement opposed by Elon Musk’s Tesla, according to a document seen by Reuters, a move that could ...
In X-linked recessive disorders, only females can be the carriers of the recessive mutation, making them obligate carriers of this type of disease. Females acquire one X-chromosome from their father and one from their mother, and this means they can either be heterozygous for the mutated allele or homozygous. If heterozygous, she is a carrier ...
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 ...