A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
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London, England: Libertas Academica
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Language
English
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Publisher
London, England: Libertas Academica
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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...
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Full title
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
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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
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ISSN
1179-5476
E-ISSN
1179-5476
DOI
10.4137/CCRep.S30867