Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome
Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome
About this item
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Publisher
Heidelberg: Springer
Journal title
Language
English
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Publication information
Publisher
Heidelberg: Springer
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More information
Scope and Contents
Contents
We report a girl with congenital nephrotic syndrome (CNS) associated with cytomegalovirus (CMV) infection and histological findings on renal biopsy that suggested a causal relationship between the two. She was subsequently found to be homozygous for a nonsense mutation in the NPHS2 gene encoding podocin (R138X), which is the true cause of her NS. B...
Alternative Titles
Full title
Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome
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Record Identifier
TN_cdi_proquest_miscellaneous_73109754
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_73109754
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-003-1079-3
