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Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions

✍ Scribed by A. Superti-Furga; G. F. Hoffmann


Publisher
Springer
Year
1997
Tongue
English
Weight
825 KB
Volume
156
Category
Article
ISSN
0340-6997

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Novel mutations of the glutaryl-CoA dehy
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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