Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes

K Itoh, Yasunori Naganawa, Fumiko Matsuzawa, Sei‐ichi Aikawa, Hirofumi Doi, Naokazu Sasagasako, Takeshi Yamada, Jun-ichi Kira, Takuya Kobayashi, Alexey V. Pshezhetsky,

Journal of Human Genetics · 2002 · 43 citations · 34 references

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