A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

doi:10.1111/j.1365-2141.1990.tb02651.x

Back to search

Article

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

British journal of haematology - 1 Jun 1990

Bottema C D, Koeberl D D, Ketterling R P, Bowie E J, Taylor S A, Lillicrap D, Shapiro A, Gilchrist G, Sommer S S

Abstract excerpt

Of the factor IX sequence changes that we have identified in 65 consecutive males with haemophilia B, 11 (17%) are the same mutation. This mutation is a T----C transition at base 31311 which substitutes threonine for isoleucine397 (ile397) in the factor IX molecule. The 11 patients are of Western...

Topics

Factor IX
Genetic Carrier Screening
Haplotypes
Hemophilia B
Humans
Isoleucine
Male
Mutation
Pedigree
Polymerase Chain Reaction

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.