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DNA polymerase alpha defect in the N syndrome.
Floy KM, Hess RO, Meisner LF. Floy KM, et al. Am J Med Genet. 1990 Mar;35(3):301-5. doi: 10.1002/ajmg.1320350302. Am J Med Genet. 1990. PMID: 1689958
Bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fancon …
Bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N …
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT. Yang TP, et al. Nature. 1984 Aug 2-8;310(5976):412-4. doi: 10.1038/310412a0. Nature. 1984. PMID: 6087154
L-N patients fail to reproduce and the heterozygous state appears to confer no selective advantage. Thus, Haldane's principle predicts that new mutations at the hprt locus must occur frequently in order for L-N syndrome to be maintained in the population. ... …
L-N patients fail to reproduce and the heterozygous state appears to confer no selective advantage. Thus, Haldane's principle predicts …