title: [Gene diagnosis and carrier detection of hemophilia B by using genomic amplification with transcripts sequencing].
abstract: Using GAWTS technique (genomic amplification with transcripts sequencing), we studied germline mutation patterns of 36 hemophilia B patients from the mainland of China. Some distinctions between Chinese and USA caucasians were found. The GAWTS was strongly recommanded to be used in the direct genomic sequencing as a good technique. Seventeen carriers were identified.
authors.affiliation: Capital University of Medical Sciences, Beijing.
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: H
authors.initials: H
authors.lastname: Xiang
authors.forename: L
authors.initials: L
authors.lastname: Liu
mesh_terms: D044466:Asian People; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D044465:White People
chemical_list: D005164:Factor IX