Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
| Autor: | Tummala, Hemanth, Walne, Amanda, Buccafusca, Roberto, Alnajar, Jenna, Szabo, Anita, Robinson, Peter, McConkie-Rosell, Allyn, Wilson, Meredith, Crowley, Suzanne, Kinsler, Veronica, Ewins, Anna-Maria, Madapura, Pradeepa M., Patel, Manthan, Pontikos, Nikolas, Codd, Veryan, Vulliamy, Tom, Dokal, Inderjeet |
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| Zdroj: | In The American Journal of Human Genetics 4 August 2022 109(8):1472-1483 |
| Databáze: | ScienceDirect |
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