Article
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Journal of human genetics - 1 Jan 2002
Itoh Kohji, Naganawa Yasunori, Matsuzawa Fumiko, Aikawa Seiichi, Doi Hirofumi, Sasagasako Naokazu, Yamada Takeshi, Kira Jun-ichi, Kobayashi Takuro, Pshezhetsky Alexey V, Sakuraba Hitoshi
Abstract excerpt
Three novel missense mutations in the human lysosomal sialidase gene causing amino acid substitutions (P80L, W240R. and P316S) in the coding region were identified in two Japanese sialidosis patients. One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R). The other patient with a mild juvenile-onset phenotype (type 1) was a...
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