Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
种系胸苷酸合酶缺乏影响核苷酸代谢并导致先天性角化不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.06.014
Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal