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Browsing Research Articles (University of Pretoria) by Subject "(c.425G>A) Mutation"

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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

Al-Asmari, Ali; Peer-Zada, Abdul Ali; AlDehaimi, Abdulwahed; Polychronakos, Constantin; Chentoufi, Aziz Alami (Elsevier, 2022-12)

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 ...

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