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Article

Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2017

Fohner Alison E, Garrison Nanibaa' A, Austin Melissa A, Burke Wylie

Abstract excerpt

Carnitine palmitoyltransferase 1 isoform A (CPT1A) is a crucial enzyme for the transport of long-chain fatty acids into the mitochondria. The CPT1A p.P479L variant is found in high frequencies among indigenous populations residing on the west and north coasts of Alaska and Canada and in northeast Siberia and Greenland. Epidemiological studies have reported a statistical association between P479L homozygosity and...

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Identifiers

PMID: 28125087
DOI: 10.1038/gim.2016.202
PMCID: PMC5620101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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