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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations i...

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations i...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2496237904

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients

About this item

Full title

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2021-08, Vol.66 (8), p.795-803

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. FSGS is considered as a podocyte disease due to the fact that in the majority of patients with FSGS, the lesion results from defects in the pod...

Alternative Titles

Full title

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2496237904

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2496237904

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-021-00912-2

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