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Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown...

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_902418779432476f94ecc19a468961b8

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

About this item

Full title

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

Publisher

England: British Medical Journal Publishing Group

Journal title

BMJ open, 2022-04, Vol.12 (4), p.e057829-e057829

Language

English

Formats

Publication information

Publisher

England: British Medical Journal Publishing Group

More information

Scope and Contents

Contents

IntroductionChronic kidney disease (CKD) can be caused by a variety of systemic or primary renal diseases. The cause of CKD remains unexplained in approximately 20% of patients. Retrospective studies indicate that massively parallel sequencing (MPS)-based gene panel testing may lead to a genetic diagnosis in 12%–56% of patients with unexplained CKD...

Alternative Titles

Full title

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_902418779432476f94ecc19a468961b8

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_902418779432476f94ecc19a468961b8

Other Identifiers

ISSN

2044-6055

E-ISSN

2044-6055

DOI

10.1136/bmjopen-2021-057829

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