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Functional characterization of two missense mutations in Pex5p—C11S and N526K

✍ Scribed by Andreia F. Carvalho; Cláudia P. Grou; Manuel P. Pinto; Inês S. Alencastre; João Costa-Rodrigues; Marc Fransen; Clara Sá-Miranda; Jorge E. Azevedo


Book ID
113486071
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
459 KB
Volume
1773
Category
Article
ISSN
0167-4889

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Characterization of N93S, I312T, and A33
✍ Toshiyuki Fukao; Haruki Nakamura; Xiang-Qian Song; Kozue Nakamura; Kenji E. Orii 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 976 KB

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine catabolisms. Japanese patients, GK01 and GK19, were found to be compound heterozygotes of 149delC and A333P, and N93S and I312T, respectively. The latter three missense mutations were individually