Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change.

Abstract excerpt

The polymerase chain reaction procedure (PCR) coupled with direct sequencing has been used to screen a panel of haemophilia B patients. This analysis has identified, amongst others, several mutations in the functionally important gla and type B EGF domains of factor IX, both of which are known to bind calcium. Type B EGF domains are widely distributed in proteins; located within these domains are highly conserved...

Topics

• Base Sequence
• Calcium
• Electrophoresis, Gel, Two-Dimensional
• Factor IX
• Hemophilia B
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction