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Article

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

Journal of the American Society of Nephrology : JASN - 1 Dec 2005

Weins Astrid, Kenlan Peter, Herbert Stephanie, Le Tu C, Villegas Ivan, Kaplan Bernard S, Appel Gerald B, Pollak Martin R

Abstract excerpt

Mutations in the alpha-actinin-4 gene (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS). A mutational analysis was performed of ACTN4 in DNA from probands with a family history of FSGS as well as in individuals with nonfamilial FSGS. The possible contribution of noncoding variation in ACTN4 to the development of FSGS also was assessed. Multiple nucleotide variants were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16251236
DOI: 10.1681/ASN.2005070706

Genes

ACTN4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.PMID 16251236Read ↗

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