𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

✍ Scribed by Xue Yang; Osamu Sakamoto; Yoichi Matsubara; Shigeo Kure; Yoichi Suzuki; Yoko Aoki; Seiji Yamaguchi; Yukihiro Takahashi; Toshiya Nishikubo; Chiharu Kawaguchi; Akira Yoshioka; Toshiyuki Kimura; Kiyoshi Hayasaka; Yoshinori Kohno; Kazuie Iinuma; Toshihiro Ohura

Book ID
116987469
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
976 KB
Volume
81
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Overview of mutations in the PCCA and PC
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
✍ Magdalena Ugarte; Celia Pérez-Cerdá; Pilar Rodríguez-Pombo; Lourdes R. Desviat; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 296 KB 👁 2 views

Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl-CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, cholesterol, and other metabolites. The enzyme is composed

Identification of novel mutations in the
Identification of novel mutations in the PCCB gene in European propionic acidemia patients
✍ Silvia Muro; Pilar Rodríguez-Pombo; Belén Pérez; Celia Pérez-Cerdá; Lourdes R. D 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme located in the mitochondrial matrix. Mutations in the PCCA and PCCB genes, which encode the α α and β β subunits of this heteropolymer, result in propionic acidemia (PA). We report the molecular analysis of β β-deficient patients from Spai