Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.

doi:10.1111/j.1365-2141.1993.tb03142.x

Back to search

Article

Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.

British journal of haematology - 1 Aug 1993

Chowdhury V, Olds R J, Lane D A, Conard J, Pabinger I, Ryan K, Bauer K A, Bhavnani M, Abildgaard U, Finazzi G

Abstract excerpt

We have utilized DNA heteroduplex detection as a method for screening sequences of the antithrombin (AT) gene for the presence of mutations. Affected individuals from 41 kindreds with type Ia antithrombin deficiency were investigated. Heteroduplexes were detected in 12 cases; direct sequencing of...

Topics

Antithrombins
Base Sequence
Electrophoresis
Family
Humans
Mutation
Nucleic Acid Heteroduplexes
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.