Article
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Genetic testing and molecular biomarkers - 1 Jul 2016
Gupta Deepti, Bijarnia-Mahay Sunita, Kohli Sudha, Saxena Renu, Puri Ratna Dua, Shigematsu Yosuke, Yamaguchi Seiji, Sakamoto Osamu, Gupta Neerja, Kabra Madhulika, Thakur Seema, Deb Roumi, Verma Ishwar Chander
Abstract excerpt
AIMS: The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes, and to assess their effects on propionic academia (PA) patients. METHODOLOGY: Twenty-five Indian children with PA were enrolled in this study. Bidirectional Sanger sequencing was performed on both the coding and flanking regions of the PCCA and PCCB...
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