## Communicated by Georgia Chenevix-Trench Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from fou
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Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes
โ Scribed by K. Itoh; Y. Naganawa; F. Matsuzawa; S. Aikawa; H. Doi; N. Sasagasako; T. Yamada; J. Kira; T. Kobayashi; A. V. Pshezhetsky; H. Sakuraba
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 356 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1435-232X
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