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The largest part of patients carry small COL5A1 pathogenic variants and the majority of these are null alleles (nonsense, frameshift, out-of-frame splice) leading to functional haploinsufficiency

With so much hype and controversy about vaping, it is useful to go back and examine how long vapes have been around

8 At that time, only a few of his books had been translated into English, and since I had studied Italian at Johns Hopkins University and the University of Perugia in 1963, and had just been working in Italy on The English Patient , I decided that translating Malaparte would be a test case

The woody part next to the green outer cortex shows a dark brown discoloration of the water-conducting vessels