Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria

BACKGROUND: Phenylketonuria is a common inborn defect of amino acid metabolism in the world. This failure is caused by an autosomal recessive insufficiency of the hepatic enzyme PAH, which catalyzes the irreversible hydroxylation of phenylalanine to tyrosine. More than 1,040 different disease-causin...

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Detalles Bibliográficos
Autores principales: Namdar Aligoodarzi, Pegah, Rostami, Golale, Kazemi Nezhad, Seyed Reza, Hamid, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2023
Materias:
Full Length
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971712/
https://www.ncbi.nlm.nih.gov/pubmed/36624928
http://dx.doi.org/10.52547/ibj.3856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971712/
https://www.ncbi.nlm.nih.gov/pubmed/36624928
http://dx.doi.org/10.52547/ibj.3856

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