Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome...
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
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Publisher
India: Springer-Verlag
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Language
English
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Publisher
India: Springer-Verlag
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Contents
About 60% of infantile nephrotic syndrome (INS) cases are caused by mutations in four genes: NPHS1, NPHS2, LAMB2 and WT1. We report two cases with clinical ndings compatible with congenital nephrotic syndrome (CNS). Both probands and their parents were screened for nucleotide changes in the coding regions of the NPHS1 and NPHS2 genes along with the...
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Full title
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
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TN_cdi_proquest_miscellaneous_1490782869
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1490782869
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ISSN
0022-1333
E-ISSN
0973-7731
DOI
10.1007/s12041-013-0290-7
