Article
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
Human genetics - 1 Feb 1994
Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F, Nishikawa S, Matsuda I
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is an X-linked disease with a heterogeneous phenotype, even in affected males. To detect mutations in the OTC gene using genomic DNA, we have developed a method in which all exons and adjacent introns are amplified and sequenced. Although this approach...
Topics
- Amino Acid Metabolism, Inborn Errors
- Animals
- Base Sequence
- Cell Line
- Chlorocebus aethiops
- Cloning, Molecular
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Gene Expression Regulation, Enzymologic
- Humans
- Immunoblotting
- Male
- Molecular Sequence Data