ABCA1 p.Arg1897Trp
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PMID: 15722566
[PubMed]
Fasano T et al: "Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency."
No.
Sentence
Comment
111
In addition, he was found to be heterozygous for a novel nucleotide change in exon 42 (c.5689CϾT) causing a nonsynonymous amino acid substitution (R1897W).
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ABCA1 p.Arg1897Trp 15722566:111:153
status: NEW119 Use of DHPLC for mutation screening To ascertain whether the novel nucleotide substitution in exon 42 (c.5689CϾT, R1897W) found in proband T.M. was a previously undetected common polymorphism, we used DHPLC to screen 50 randomly selected control subjects (see supplementary Fig. II).
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ABCA1 p.Arg1897Trp 15722566:119:120
status: NEW110 In addition, he was found to be heterozygous for a novel nucleotide change in exon 42 (c.5689CT) causing a nonsynonymous amino acid substitution (R1897W).
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ABCA1 p.Arg1897Trp 15722566:110:147
status: NEW118 Use of DHPLC for mutation screening To ascertain whether the novel nucleotide substitution in exon 42 (c.5689CT, R1897W) found in proband T.M. was a previously undetected common polymorphism, we used DHPLC to screen 50 randomly selected control subjects (see supplementary Fig. II).
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ABCA1 p.Arg1897Trp 15722566:118:114
status: NEW