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A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_da6d3528b14f4c1faff3c446cf8dfc39

A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

About this item

Full title

A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

Publisher

SAGE Publishing

Journal title

Clinical medicine insights. Case reports, 2016-09, Vol.9

Language

English

Formats

Publication information

Publisher

SAGE Publishing

More information

Scope and Contents

Contents

Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374A, c.1120 A > G). Our patient displayed mild cogni...

Alternative Titles

Full title

A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_da6d3528b14f4c1faff3c446cf8dfc39

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_da6d3528b14f4c1faff3c446cf8dfc39

Other Identifiers

E-ISSN

1179-5476

DOI

10.4137/CCRep.S30867

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