Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.

doi:10.1016/j.ejmg.2011.05.003

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Article

Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.

European journal of medical genetics - 1 Jan 2000

Keller Sylvia, Prechtl Danielle, Aslanidis Charalampos, Ceglarek Uta, Thiery Joachim, Schmitz Gerd, Jahreis Gerhard

Abstract excerpt

Whilst conducting a scientific study, an elevated plasma plant sterol concentration of 3.07 mg/dL was established in one proband. Similar levels found in his mothers plasma (2.73 mg/dL) were suggestive of a heterozygous sitosterolemia. The resulting gene analysis for ATP binding cassette transporter G5/G8 (ABCG5/G8) revealed a heterozygous polymorphism in ABCG8 (Thr400Lys, rs4148217), which the proband had...

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PMID: 21664501
DOI: 10.1016/j.ejmg.2011.05.003

Genes

ABCG5
ABCG8

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