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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Detalles Bibliográficos
Autores principales: Al-Asmari, Ali, Peer-Zada, Abdul Ali, AlDehaimi, Abdulwahed, Polychronakos, Constantin, Chentoufi, Aziz A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535431/
https://www.ncbi.nlm.nih.gov/pubmed/36211601
http://dx.doi.org/10.1016/j.sjbs.2022.103461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535431/
https://www.ncbi.nlm.nih.gov/pubmed/36211601
http://dx.doi.org/10.1016/j.sjbs.2022.103461

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