Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA.
Chern T, et al. Among authors: poche ra.
Nat Commun. 2022 Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7.
Nat Commun. 2022.
PMID: 35013307
Free PMC article.