𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

✍ Scribed by N. Gregersen; B. S. Andresen; P. Bross; V. Winter; N. Rüdiger; S. Engst; S. Ghisla; E. Christensen; D. Kelly; A. W. Strauss; S. Kølvraa; L. Bolund; A. Blakemore; D. Curtis; P. Engel

Publisher
Springer
Year
1991
Tongue
English
Weight
264 KB
Volume
14
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The most common mutation causing medium-
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene
✍ Steen Kølvraa; Niels Gregersen; Alexandra I. F. Blakemore; Anne K. Schneidermann 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 395 KB

RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency. The RFLPs were detected after digestion of patient DNA with the enzymes BanII, PstI and TaqI and with an MCAD cDNA-clone as a probe. Of

Molecular basis of very long chain acyl-
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
✍ Hiroh Watanabe; Kenji E. Orii; Toshiyuki Fukao; Xiang-Qian Song; Toshifumi Aoyam 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB 👁 3 views

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm