ABCA1 p.Glu868Lys

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PMID: 17383594 [PubMed] Mantaring M et al: "Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype."
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62 According to the third National Health and Nutrition Examination Survey (NHANES III) (n ϭ 17,000), the prevalence of HDL-C Ͼ 100 mg/dL (0.85%) is similar to that of very low HDL-C (eg, Ͻ20 mg/dL).20 Complete screening of ABCA1 disclosed 5 mutations (E868K, Q1279K, G1421X, R1925Q, and Y2178H) that, to the authors` knowledge,3,4 have not been previously reported.
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ABCA1 p.Glu868Lys 17383594:62:268
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68 Novel ABCA1 mutations and associated clinical characteristics Mutation Gender YOB HDL-C† CVD Risk factors E868K Male* 1936 37 ϩ Diabetes Q1279K Male 1949 37 ϩ MetS G1421X Female 1942 32 ϩ Diabetes/Smoker R1925Q Male* 1931 23 ϩ MetS Y2178H Male 1955 36 ϩ Smoker Abbreviations: MetS, metabolic syndrome; YOB, year of birth.
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ABCA1 p.Glu868Lys 17383594:68:112
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61 According to the third National Health and Nutrition Examination Survey (NHANES III) (n afd; 17,000), the prevalence of HDL-C b0e; 100 mg/dL (0.85%) is similar to that of very low HDL-C (eg, b0d;20 mg/dL).20 Complete screening of ABCA1 disclosed 5 mutations (E868K, Q1279K, G1421X, R1925Q, and Y2178H) that, to the authors` knowledge,3,4 have not been previously reported.
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ABCA1 p.Glu868Lys 17383594:61:268
status: NEW
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