HIGHLIGHTS
- who: Press et al. from the MRC Institute the University Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter , ED, United Kingdom have published the paper: PRIM1 deficiency causes a distinctive primordial dwarfism syndrome, in the Journal: (JOURNAL)
- what: Nonetheless components of the replisome have been implicated in human disease and here the authors report encoding the catalytic subunit of DNA primase as a novel disease gene. The authors report the identification of PRIM1 as an MPD gene, and demonstrate that mutations reduce cellular PRIM1 protein levels, impairing DNA replication. The authors report here . . .
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