Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elaheh, Alavinejad"'
Autor:
Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR
Publikováno v:
Iranian Journal of Public Health, Vol 46, Iss 4 (2017)
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel hetero
Externí odkaz:
https://doaj.org/article/1ac23fb6da4d43d3b79a4b0f179855cf
Autor:
Ali, Dehghani, Elham, Zokaei, Seyyed Mohammad, Kahani, Elaheh, Alavinejad, Mohammad, Dehghani, Gholam Hossein, Meftahi, Mohammad Reza, Afarinesh
Publikováno v:
Asian Journal of Psychiatry. 72:103097
Due to its high prevalence and fatality, the current Severe Acute Respiratory Syndrome-coronavirus-2 (SARS-CoV-2) virus, which first emerged in China in 2019, quickly spread around the world and immediately became a serious global health concern. Alt
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
Autor:
Mohammad Keramatipour, Saeed Talebi, Seyede Zahra Sajedi, Golnaz-Ensieh Kazemi-sefat, Seyyed Mojtaba Mohaddes Ardebili, Masoumeh Razipour, Aria Setoodeh, Neda Mohajer, Jalal Gharesouran, Mona Entezam, Elaheh Alavinejad
Publikováno v:
Metabolic Brain Disease. 32:1685-1691
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PA
Autor:
Elaheh, Alavinejad, Seyede Zahra, Sajedi, Masoumeh, Razipour, Mona, Entezam, Neda, Mohajer, Aria, Setoodeh, Saeed, Talebi, Mohammad, Keramatipour
Publikováno v:
Avicenna Journal of Medical Biotechnology
Background: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedig