A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.

doi:10.1046/j.1365-2141.1998.01122.x

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Article

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.

British journal of haematology - 1 Dec 1998

Liu M, Murphy M E, Thompson A R

Abstract excerpt

A variety of mutations are found in haemophilia A families. Those with circulating, dysfunctional protein can provide insights into structural determinants of factor VIII function. A molecular model based upon the crystal structure of the homologous A domains in caeruloplasmin enables predictions...

Topics

Amino Acid Substitution
Exons
Factor VIII
Female
Hemophilia A
Humans
Male
Mutation
Mutation, Missense
Pedigree
Polymerase Chain Reaction
Sequence Homology, Amino Acid
src Homology Domains

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