PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the PTRH2 gene have been suggested to cause a rare autosomal recessive disorder characterized by an infantile-onset multisystem neurologic endocrine and pancreatic disease (IMNEP...

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Detalles Bibliográficos
Autores principales: Sharkia, Rajech, Jain, Sahil, Mahajnah, Muhammad, Habib, Clair, Azem, Abdussalam, Al-Shareef, Wasif, Zalan, Abdelnaser
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217894/
https://www.ncbi.nlm.nih.gov/pubmed/37239392
http://dx.doi.org/10.3390/genes14051031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217894/
https://www.ncbi.nlm.nih.gov/pubmed/37239392
http://dx.doi.org/10.3390/genes14051031

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