https://www.selleckchem.com/pr....oducts/Etopophos.htm
240 + 1G A; two missense mutations, p.R88P and p.G94D; a large deletion of exon 1 to exon 7; and one nonsense mutation, p.Q396*. In addition, two novel alterations were identified in the MPS II patients one frame shift mutation, p.D450Nfs*95 and one nonsense mutation, p.Q204*. Additionally, five known IDS polymorphisms were identified in the patients c.419-16 delT, c.641C T (p.T214M), c.438 C T (p.T146T), c.709-87G A, and c.1006 + 38 T C. Conclusions The high level of urine GAGs and the deficiency of iduronate
Mi piace
Commento
Condividi
