Article

Identification of a Mutation in the PFKP as a Causative Factor in Prenatal Glycolysis Defects and Embryonic Myocardial Hypoplasia

2025-04-07

Abstract excerpt

<title>Abstract</title> <p>Congenital heart disease (CHD) is the most common birth defect worldwide, which lacks effective early preventive methods due to limited knowledge of the genetic defects involved in its development. Through genetic analysis of families with congenital heart disease (CHD), we identified a genetic correlation between the R755W variant of the platelet isoform of phosphofructokinase 1 (PFKP)...

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Literature Corpus work: 9f0e54d0-960c-5982-82d2-24732f4698b9
DOI: 10.21203/rs.3.rs-6341289/v1

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