Novel mutations of the glutaryl-CoA dehy
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lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga,
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Article
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1998
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John Wiley and Sons
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English
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We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a