Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
四个家族中SPATA5复合杂合变异体及SPATA5缺陷的功能研究
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0001-6
Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J; Safiulina, Dzhamilja; Strom, Tim M; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B; Õunap, Katrin