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Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4e9f4409361b4fa6b0d6718d8aaead75

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

About this item

Full title

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular Genetics & Genomic Medicine, 2021-05, Vol.9 (5), p.e1658-n/a

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. Their histologic desc...

Alternative Titles

Full title

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_4e9f4409361b4fa6b0d6718d8aaead75

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4e9f4409361b4fa6b0d6718d8aaead75

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.1658

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