Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
TOP3A基因突变会导致类似布鲁姆综合征的疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.07.001
Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A Y; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H; Gorman, Gráinne S; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E; Hickson, Ian D; Jackson, Andrew P