COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

Date

2015

Author

Constantinou-Deltas, Constantinos D.
Pierides, Alkis M.

Source

Kidney international

Volume

87

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Keyword(s):

Greece

human

Humans

female

priority journal

male

gene

histopathology

Autoantigens

cohort analysis

hematuria

kidney disease

kidney function

proteinuria

early diagnosis

genetics

Letter

gene mutation

heterozygosity

next generation sequencing

collagen type 4

chronic kidney failure

genetic screening

Collagen Type IV

Cypriot

end stage renal disease

kidney biopsy

genetic linkage

Alport syndrome

focal glomerulosclerosis

thin basement membrane nephropathy

autosomal dominant disorder

ACTN4 gene

autoantigen

CD2AP gene

COL4A3 gene

exome

Glomerulosclerosis, Focal Segmental

TRPC6 gene

Metadata

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Links

https://www.scopus.com/inward/record.uri?eid=2-s2.0-84926500254&doi=10.1038%2fki.2015.38&partnerID=40&md5=63a8a37252c380f591d61c90be6f02a4

DOI

10.1038/ki.2015.38

URI

http://gnosis.library.ucy.ac.cy/handle/7/53031

Collections

• Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences [677]

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