ABCG8 p.Gln24His
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PMID: 15210841
[PubMed]
Sehayek E et al: "Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels."
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Sequencing the ATP binding cassette subfamily G member 8 (ABCG8) gene revealed a novel exon 2 mutation that causes a change in codon 24 from glutamine to histidine and a frame shift followed by a premature stop codon, precluding the formation of a functional ABCG8 protein.
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ABCG8 p.Gln24His 15210841:1:133
status: VERIFIED79 This mutation would result in a change in codon 24 from Gln to His and a frame shift followed by eight new codons and a premature stop codon, precluding the formation of a functional ABCG8 protein.
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ABCG8 p.Gln24His 15210841:79:48
status: VERIFIED