Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I.
Tummala H, et al. Among authors: patel m.
Am J Hum Genet. 2024 Jun 9:S0002-9297(24)00186-1. doi: 10.1016/j.ajhg.2024.05.022. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38866021
No abstract available.