@article{b03b109817c64164befa334ef5d789b7,
title = "Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene",
abstract = "We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-δ-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 20 20 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79% of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity.",
author = "Jacques Michaud and Brody, {Lawrence C.} and Gary Steel and Gis{\`e}le Fontaine and Martin, {Laura S.} and David Valle and Grant Mitchell",
note = "Funding Information: We thank the following physicians who provided GA cell lines: Bruce Gordon, Rod McInnes, Mary Abraham, and Jean-Marie Saudu-bray. We acknowledge the secretarial assistance of Sylvie Tasse. This work was supported by the Medical Research Council of Canada (GM), the National Eye Institute (2ROlEY02948) and the Howard Hughes Medical Institute (DV).",
year = "1992",
month = jun,
doi = "10.1016/0888-7543(92)90258-T",
language = "English (US)",
volume = "13",
pages = "389--394",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "2",
}