Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
TRNT1 的亚效等位基因突变导致视网膜色素变性,伴有红细胞小细胞增多症
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv446
Adam P DeLuca, S Scott Whitmore, Jenna Barnes, Tasneem P Sharma, Trudi A Westfall, C Anthony Scott, Matthew C Weed, Jill S Wiley, Luke A Wiley, Rebecca M Johnston, Michael J Schnieders, Steven R Lentz, Budd A Tucker, Robert F Mullins, Todd E Scheetz, Edwin M Stone, Diane C Slusarski