Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
共济失调-全血细胞减少症是由SAMD9L基因错义突变引起的
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.04.009
Chen, Dong-Hui; Below, Jennifer E; Shimamura, Akiko; Keel, Sioban B; Matsushita, Mark; Wolff, John; Sul, Youngmee; Bonkowski, Emily; Castella, Maria; Taniguchi, Toshiyasu; Nickerson, Deborah; Papayannopoulou, Thalia; Bird, Thomas D; Raskind, Wendy H