Yamada N.,1998


Yamada N., Fukuda S., Tomatsu S., Muller V., Hopwood J.J., Nelson J., Kato Z., Yamagishi A., Sukegawa K., Kondo N., Orii T. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. - Hum.Mut., 1998, v. 11, p. 202-208.