𝔖 Bobbio Scriptorium
✦   LIBER   ✦

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

✍ Scribed by Janet Hoenicka; Pilar Rodríguez-Pombo; Celia Pérez-Cerdá; Silvia Muro; Eva Richard; Magdalena Ugarte

Book ID
102262440
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
298 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

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