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Article

Consequences of factor IX mutations in 26 families with haemophilia B.

British journal of haematology - 1 Jan 1998

Weinmann A F, Murphy M E, Thompson A R

Abstract excerpt

Haemophilia B is due to a variety of mutations within the factor IX gene. In the Seattle series, 26 additional unrelated families have had a mutation identified within the past 2 years. Of these, 11 were common recurrent point mutations identifiable by rapid restriction digest screening; eight of these probably represent founder mutations. 15 others were identified by sequencing amplified coding region fragments;...

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Identifiers

PMID: 9450791
DOI: 10.1046/j.1365-2141.1998.00512.x

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