ABCMdb

PMID: 15722566

Fasano T, Bocchi L, Pisciotta L, Bertolini S, Calandra S
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
J Lipid Res. 2005 Apr;46(4):817-22. Epub 2005 Feb 1., [PubMed]

Sentences

No. Mutations Sentence Comment

110 ABCA1 p.Arg1897Trp 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). Login to comment 111 ABCA1 p.Arg1897Trp 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). Login to comment 118 ABCA1 p.Arg1897Trp 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). Login to comment 119 ABCA1 p.Arg1897Trp 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). Login to comment