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Article

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.

Scientific reports - 16 Nov 2021

Nowak Albina, Murik Omer, Mann Tzvia, Zeevi David A, Altarescu Gheona

Abstract excerpt

More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence. We aimed to design and validate a method for sequencing the GLA gene using long-read Oxford Nanopore sequencing technology. Twelve Fabry patients were blindly analyzed, both by conventional Sanger sequence and by long-read...

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Identifiers

PMID: 34785703
DOI: 10.1038/s41598-021-01749-7
PMCID: PMC8595663

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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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