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Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.
Charoenwattanasatien R, Cairns JR, Keeratichamroen S, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D, Pangkanon S, Svasti J, Champattanachai V. Charoenwattanasatien R, et al. Among authors: cairns jr. Biochem Genet. 2012 Dec;50(11-12):990-7. doi: 10.1007/s10528-012-9538-9. Epub 2012 Sep 19. Biochem Genet. 2012. PMID: 22990955 No abstract available.
Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K. Kantaputra PN, et al. Among authors: cairns jrk. Arch Oral Biol. 2020 Nov;119:104918. doi: 10.1016/j.archoralbio.2020.104918. Epub 2020 Sep 16. Arch Oral Biol. 2020. PMID: 32977150
94 results