✦ LIBER ✦

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

✍ Scribed by M. Schwartz; Ernst Christensen; Andrea Superti-Furga; Niels Jacob Brandt

Publisher: Springer
Year: 1998
Tongue: English
Weight: 474 KB
Volume: 102
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050720

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

Glutaryl-CoA dehydrogenase mutations in

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

✍ Stephen I. Goodman; Donna E. Stein; Sudha Schlesinger; Ernst Christensen; Marian 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

## Glutaric acidemia type I (GA1 ) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). Sixty-three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with data on expression in Escherichia coli and rela