Log in to save to my catalogue

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4792198

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

About this item

Full title

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

Publisher

London, England: Libertas Academica

Journal title

Clinical Medicine Insights: Case Reports, 2016-03, Vol.2016 (2016), p.15-19

Language

English

Formats

Publication information

Publisher

London, England: Libertas Academica

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 CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4792198

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4792198

Other Identifiers

ISSN

1179-5476

E-ISSN

1179-5476

DOI

10.4137/CCRep.S30867

How to access this item