Expression of four mutant human ornithin
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Toshinobu Matsuura; Ryuuji Hoshide; Chiaki Setoyama; Satoru Komaki; Koji Kiwaki;
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Article
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1994
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Springer
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English
⚖ 612 KB
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 det