Chen S H, Schoof J M, Weinmann A F, Thompson A R
Department of Pediatrics, University of Washington, Seattle.
Br J Haematol. 1995 Feb;89(2):409-12. doi: 10.1111/j.1365-2141.1995.tb03319.x.
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 mutations in 7 exons and 5' and 3' non-coding regions were positive.
对包含因子IX基因所有已知小血友病突变序列的扩增片段进行异源双链体筛选，在18个新家族中定位到突变：12个位于常见的复发位点；3个是新的。来自41个家族中每个家族的携带突变的携带者和/或患者在7个外显子以及5'和3'非编码区域均呈阳性。
