Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants-Reference-Cited by-同舟云学术

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Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Published:2022-11-16 Issue:12 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Sadat Fatemi Seyedeh Helia¹²^ORCID,Eshraghi Peyman³^ORCID,Ghanei Mahmoud¹²^ORCID,Hamzehloei Tayebeh¹^ORCID

Affiliation:

1. Medical Genetics and Molecular Medicine Department, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

2. Medical Genetics Research Center, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

3. Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

Funder

Mashhad University of Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2081

Reference54 articles.

1. Incidence of neonatal hyperphenylalaninemia based on high‐performance liquid chromatography confirmatory technique in Mazandaran Province, northern Iran (2007–2015);Abbaskhanian A.;International Journal of Preventive Medicine,2017

2. Amino acid disorders

3. A Missense Mutation (A to G) of 6-Pyruvoyltetrahydropterin Synthase in Tetrahydrobiopterin-Deficient Form of Hyperphenylalaninemia

4. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

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