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maternal germline mosaicism has also been reported.[147,148] Glycine substitutions in exons 73 to 75 are the most common pathogenic variants in DDEB

The cyclization step, involving the -amino group of lysine and -carboxy group of aspartic acid, was performed using an 8-fold excess of DCC as the coupling agent and 1-hydroxybenzotriazole (HOBt) as a racemization suppressant

10.1371/journal.pone.0119479 PLoS One 76 LiaoY.TangJ.MaM.WuZ.YangM.WangX

Gustafsson M, Born J

2015;15(Suppl 6):s926