Biology of factor IX.
Hemophilia B, one of two common hereditary bleeding disorders, is caused by a deficiency of factor IX in the circulation. Molecular mechanisms of hemophilia B are highly heterogeneous including gene deletions, insertions, complex rearrangements, and a large number of point mutations. Currently, hemophilia B is treated by plasma protein replacement therapy. This therapy is effective but exposes patients to possible side effects and complications such as infection of blood-borne pathogens including hepatitis viruses and HIV-1. Intensive efforts to develop alternative, safer therapies for hemophilia B, including somatic gene therapy, are now under way.
Kurachi
K
K
Department of Human Genetics, University of Michigan Medical School, Ann Arbor.
Furukawa
M
M
Yao
S N
SN
Kurachi
S
S
D000595:Amino Acid Sequence; D001483:Base Sequence; D005164:Factor IX / Q000096:biosynthesis / Q000235:genetics / Q000502:physiology / Q000627:therapeutic use; D015316:Genetic Therapy; D002836:Hemophilia B / Q000235:genetics / Q000628:therapy; D006801:Humans; D008969:Molecular Sequence Data
D005164:Factor IX