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Walker LC, Teebi AS, Marini JC, Paepe AD, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN. Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Molecular Genetics and Metabolism. 2004 Dec;83(4):312–21. doi: 10.1016/j.ymgme.2004.07.013. |