𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase

✍ Scribed by M. Liesert; J. Zschocke; G. F. Hoffmann; N. Mühlhäuser; W. Buckel

Book ID
110225552
Publisher
Springer
Year
1999
Tongue
English
Weight
53 KB
Volume
22
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations of the glutaryl-CoA dehy
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
✍ lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

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