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A separate collapsing analysis of exome sequences from MacTel patients identified PHGDH haploinsufficiency as the most significantly enriched genetic change in this cohort, with numerous deleterious coding variants identified and confirmed via enzyme assay (26)
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2016;5(5):e003046
[DOI] [PMC free article] [PubMed] [Google Scholar] 256.Husemoen L.L.N., Toft U., Fenger M., Jrgensen T., Johansen N., Linneberg A
This case-control study included 80 women, divided into two groups: women with obesity group ( n = 40) and a normal-weight control group ( n = 40)
