Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

• Main Authors: Brunham L.R., Singaraja R.R., Pape T.D., Kejariwal A., Thomas P.D., Hayden M.R.
• Other Authors: MEDICINE
• Format: Article
• Published: 2019
• Subjects: ABC transporter; ABC transporter A1; cholesterol; complementary DNA; amino acid substitution; article; cell line; genetic variability; genetics; genome; human; metabolism; missense mutation; molecular evolution; nucleotide sequence; phenotype; reverse transcription polymerase chain reaction; single nucleotide polymorphism; Amino Acid Substitution; ATP-Binding Cassette Transporters; Cell Line; Cholesterol; Conserved Sequence; DNA, Complementary; Evolution, Molecular; Genome, Human; Humans; Mutation, Missense; Phenotype; Polymorphism, Single Nucleotide; Reverse Transcriptase Polymerase Chain Reaction; Variation (Genetics)
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161875
• Institution: National University of Singapore

10.1371/journal.pgen.0010083