Blood coagulation is a host defense system that assists in maintaining the integrity of the
closed, high-pressure mammalian circulatory system after blood vessel injury. After initiation …

Alternative splicing is the major source of proteome diversity in humans and thus is highly
relevant to disease and therapy. For example, recent work suggests that the long-sought …

Reports of single base-pair mutations within gene coding regions causing human genetic
disease were collated. Thirty-five per cent of mutations were found to have occurred within …

Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis
pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a …

Retinoblastoma (RB) is a malignant tumor of developing retina that arises when
abnormalities resulting in loss of function affect both alleles of the gene at the retinoblastoma …

Hemophilia B is an X‐chromosome‐linked inherited bleeding disorder primarily affecting
males, but those carrier females with reduced factor IX activity (FIX: C) levels may also …

The rat small eye strain (rSey) lacks eyes and nose in the homozygote, and is similar to the
mouse Sey strain with mutations in the Pax-6 gene. We isolated Pax-6 cDNA clones from an …

Multiple interacting mechanisms control the formation and dissolution of clots to maintain
blood in a state of delicate balance. In addition to a myriad of biochemical reactions …

The receptor with high affinity for immunoglobulin E (IgE) on mast cells and basophils is
critical in initiating allergic reactions. It is composed of an IgE-binding α subunit, a β subunit …

RNA amplification with transcript sequencing (RAWTS) is a rapid and sensitive method of
direct sequencing that involves complementary DNA synthesis, polymerase chain reaction …