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Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: di natale p. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T. Tomatsu S, et al. Among authors: di natale p. Hum Mutat. 1997;10(5):368-75. doi: 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1997. PMID: 9375852
Mutations among Italian mucopolysaccharidosis type I patients.
Gatti R, DiNatale P, Villani GR, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ. Gatti R, et al. J Inherit Metab Dis. 1997 Nov;20(6):803-6. doi: 10.1023/a:1005323918923. J Inherit Metab Dis. 1997. PMID: 9427149
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: di domenico c, di natale p. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462
101 results