Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
在307个范德伍德综合征家族和37个腘窝翼状胬肉综合征家族中,干扰素调节因子6外显子突变的患病率和非随机分布情况
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1097/GIM.0b013e318197a49a
de Lima, Renata L L Ferreira; Hoper, Sarah A; Ghassibe, Michella; Cooper, Margaret E; Rorick, Nicholas K; Kondo, Shinji; Katz, Lori; Marazita, Mary L; Compton, John; Bale, Sherri; Hehr, Ute; Dixon, Michael J; Daack-Hirsch, Sandra; Boute, Odile; Bayet, Bénédicte; Revencu, Nicole; Verellen-Dumoulin, Christine; Vikkula, Miikka; Richieri-Costa, Antônio; Moretti-Ferreira, Danilo; Murray, Jeffrey C; Schutte, Brian C