Associated Papers
Alternative Splicing of the Last TKFC Intron Yields Transcripts Differentially Expressed in Human Tissues That Code In Vitro for a Protein Devoid of Triokinase and FMN Cyclase Activity.
Costas MJ et al.
Biomolecules, 2024
Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.
Ashaat EA et al.
Bmc Genomics, 2024
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Tremblay-Laganière C et al.
Journal of Medical Genetics, 2024
The TKFC Ala185Thr variant, reported as 'null' for fructose metabolism, is fully active as triokinase.
Ribeiro JM et al.
Febs Letters, 2022
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Onoufriadis A et al.
The British Journal of Dermatology, 2021
Select a paper to view details