Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
Am J Hum Genet
.
2024 Jul 11;111(7):1494.
doi: 10.1016/j.ajhg.2024.05.022.
Epub 2024 Jun 11.
Authors
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
PMID:
38866021
PMCID:
PMC11267513
DOI:
10.1016/j.ajhg.2024.05.022
No abstract available
Publication types
Published Erratum
Grants and funding
MR/P018440/1/MRC_/Medical Research Council/United Kingdom