Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in...
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
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Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and β‐galactosidase secondary to the genetic deficiency of cathepsin A/protective protein. In lysosomes, cathepsin A forms a high‐molecular‐weight complex with β‐galactosidase and neuraminidase that protects these enzymes...
Alternative Titles
Full title
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
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Record Identifier
TN_cdi_proquest_miscellaneous_79889974
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_79889974
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/(SICI)1098-1004(1998)11:6<461::AID-HUMU7>3.0.CO;2-F
