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Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families
Author(s) -
Chen ShiHan,
Schoof Jon M.,
Weinmann Ann F.,
Thompson Arthur R.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb03319.x
Subject(s) - heteroduplex , haemophilia b , factor ix , exon , genetics , haemophilia a , gene , mutation , haemophilia , biology , coding region , coagulopathy , medicine
Summary. Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutation in 7 exons and 5’ and 3’ non‐coding regions were positive.