Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations

Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations

The aim of this study is to develop a rapid and effective method to screen for Saudi carriers of one of the most common propionic acidemia mutations (c.425G > A) and to study the functional impact of this mutation. Using allele-specific primers, we have developed a qPCR assay that clearly disting...

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Bibliographic Details
Main Authors: Ali Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, Constantin Polychronakos, Aziz A. Chentoufi
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Saudi Journal of Biological Sciences
Subjects:
Propionic acidemia
PCR
Propionyl-CoA carboxylase activity
(c.425G>A) Mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X22003771

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http://www.sciencedirect.com/science/article/pii/S1319562X22003771

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