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Article

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

Genetic testing and molecular biomarkers - 1 Jan 2014

Ezgu Fatih, Divanoglu Yoruk, Polat Murat, Bahceci Sitkiye, Hasanoglu Alev, Desnick Robert J

Abstract excerpt

For inborn errors of metabolism, high resolution melting analysis (HRMA) is a rapid, efficient, simple, and inexpensive method for mutation/rare variant screening. HRMA is a recent molecular technique for genotyping single-nucleotide polymorphisms without using probes. Here we apply HRMA to the α-galactosidase a (GLA) and glucose-6-phosphatase-alpha (G6PC) genes for mutation detection of patients with Fabry...

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Source

Identifiers

PMID: 24341606
DOI: 10.1089/gtmb.2013.0371

Genes

GLA

Variants

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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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