title: Hemophilia B in a 46,XX female probably caused by non-random X inactivation.
abstract: A female whose father had severe hemophilia B was found to have a factor IX activity of about 1%. No chromosomal abnormality could be detected and DNA analysis gave no indications of deletions or mutations of Taq I cleavage sites in the factor IX gene. Analysis of the methylation pattern of locus DXS255 indicates that the expression of hemophilia B in this patient is caused by non-random X inactivation.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
authors.forename: M
authors.initials: M
authors.lastname: Lindstedt
authors.forename: M
authors.initials: M
authors.lastname: Pigg
authors.forename: N
authors.initials: N
authors.lastname: Egberg
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
authors.forename: M
authors.initials: M
authors.lastname: Anvret
mesh_terms: D015139:Blotting, Southern; D004247:DNA / Q000032:analysis; D004303:Dosage Compensation, Genetic; D005164:Factor IX / Q000032:analysis / Q000235:genetics*; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005164:Factor IX; D004247:DNA