Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.

doi:10.1016/j.cca.2014.06.011

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Article

Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.

Clinica chimica acta; international journal of clinical chemistry - 25 Sept 2014

Sartippour Maryam R, Doroudian Roya, Frampton Gordon, Lorey Fred, Helmer George, Ho Thomson, Bhandal Ajit

Abstract excerpt

BACKGROUND: The California newborn screening program uses newborns' dried blood spots (DBS) to screen for more than 45 genetic disorders. Deficiency of galactose-1-phosphate uridyl transferase (GALT) is one of the metabolic genetic disorders screened using newborn DBS. During follow-up tests, common mutations of the GALT gene have been identified using whole blood samples. To avoid the stress of drawing an...

Topics

DNA Mutational Analysis
Double-Blind Method
Dried Blood Spot Testing
Genotyping Techniques
Humans
Infant, Newborn
Mutation
UDPglucose-Hexose-1-Phosphate Uridylyltransferase

Source

Open in PubMed

Identifiers

PMID: 24973740
DOI: 10.1016/j.cca.2014.06.011

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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