Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
Fu W, Ligabue A, Rogers KJ, Akey JM, Monnat RJ Jr.
Fu W, et al.
Hum Mutat. 2017 Feb;38(2):193-203. doi: 10.1002/humu.23148. Epub 2016 Dec 9.
Hum Mutat. 2017.
PMID: 27859906
Free PMC article.
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. ...The use of biochemical and model organism data, to …
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson …