PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, bi...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genes Dev
मुख्य लेखकों: Parry, David A., Tamayo-Orrego, Lukas, Carroll, Paula, Marsh, Joseph A., Greene, Philip, Murina, Olga, Uggenti, Carolina, Leitch, Andrea, Káposzta, Rita, Merő, Gabriella, Nagy, Andrea, Orlik, Brigitta, Kovács-Pászthy, Balázs, Quigley, Alan J., Riszter, Magdolna, Rankin, Julia, Reijns, Martin A.M., Szakszon, Katalin, Jackson, Andrew P.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Cold Spring Harbor Laboratory Press 2020
विषय:
Research Paper
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608753/
https://ncbi.nlm.nih.gov/pubmed/33060134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.340190.120
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन