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Article

Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms.

Biochemical genetics - 1 Feb 2008

Yamazaki Naoshi, Matsuo Taisuke, Kurata Miho, Suzuki Makiko, Fujiwaki Takehisa, Yamaguchi Seiji, Terada Hiroshi, Shinohara Yasuo

Abstract excerpt

Heart/muscle type carnitine palmitoyltransferase I (M-CPTI) catalyzes the rate-limiting step of mitochondrial long-chain fatty acid (LCFA) oxidation in muscle and adipose tissue. Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism. These nucleotide replacements were found to be common single...

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PMID: 17987377
DOI: 10.1007/s10528-007-9129-3

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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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