ABCMdb

ABCA1 p.Tyr2178His

None has been submitted yet.

Publications

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."

No. Sentence Comment

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. Login to comment
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. Login to comment
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. Login to comment