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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/2709

Title: Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis
Authors: Lodewyckx, L
Van Steenbergen, W
Issue Date: 2001
Publisher: WILEY-LISS
Citation: HUMAN MUTATION, 18(3). p. 243-250
Abstract: A method for mutation detection in the alpha-1 antitrypsin gene (protease inhibitor 1; PI) has been developed using denaturing gradient gel electrophoresis of PCR amplified gene fragments. Using this experimental approach, all common phenotypes and mutations could be detected. Denaturing gradient gel electrophoresis (DGGE) was compared with standard isoelectric focusing (IEF) in 20 potential alpha1-antitrypsin deficient patients and their relatives. The genotype determined by DGGE was found to be more reliable in some cases than IEF, which is essential for a proper diagnosis of alpha-1 antitrypsin malfunctioning. Hum Mutat 18:243-250, 2001. (C) 2001 Wiley,Liss, Inc.
Notes: LUC Diepenbeek, Biomed Onderzoeks Inst, B-3590 Diepenbeek, Belgium. Catholic Univ Louvain, Univ Hosp Gasthuisberg, Dept Hepatobiliary & Pancreat Dis, B-3000 Louvain, Belgium.Michiels, L, LUC Diepenbeek, Biomed Onderzoeks Inst, Univ Campus Gebouw A, B-3590 Diepenbeek, Belgium.
URI: http://hdl.handle.net/1942/2709
DOI: 10.1002/humu.1180
ISI #: 000170742100007
ISSN: 1059-7794
Category: A1
Type: Journal Contribution
Validation: ecoom, 2002
Appears in Collections: Research publications

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