Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression-Reference-Cited by-同舟云学术

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression

Published:2004-01 Issue:1 Volume:23 Page:32-39
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pattison Susan,Pankarican Michael,Rupar C. Anthony,Graham Frank L.,Igdoura Suleiman A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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5. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis;Bonten;Hum Mol Genet,2000

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