[Factors VII, VIII, IX, and X: molecular genetics and gene diagnosis].
Molecular genetic aspects of the inherited bleeding disorders haemophilia A and B, deficiencies of factor VII and X are described. The spectrum of the mutations is characterized. For genetic counselling the X-chromosomal inheritance of haemophilia and the principles of the indirect and direct genomic diagnosis are explained. Clinics and genetics of the rare inherited bleeding disorders known as factor VII and factor X deficiency are summarized. The mutations spectrum, the role of polymorphisms, the bleeding pattern and genotype-phenotype relations are described.
Herrmann
F H
FH
Institut für Humangenetik, Ernst-Moritz-Arndt-Universität, Fleischmannstr. 42-44, 17487 Greifswald. herrmafh@uni-greifswald.de.
Wulff
K
K
D000595:Amino Acid Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D005167:Factor VII / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005170:Factor X / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics; D002836:Hemophilia B / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011487:Protein Conformation
D005167:Factor VII; D005169:Factor VIII; D005164:Factor IX; D005170:Factor X