ArticleMaedica2014
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
Article in Maedica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with PhenylketonuriaIranian biomedical journal · 2023Article
- The status ofMedical journal of the Islamic Republic of Iran · 2019Article
- Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.Iranian journal of medical sciences · 2018Article
- Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.Maedica · 2015Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. MATERIAL AND
methodsVNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. OUTCOMES: Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546-VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q-VNTR8 (22.5%). The association of VNTR3 was found as R252W-VNTR3 (2.5%) and S67P-VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546-VNTR8/IVS10nt546-VNTR8, IVS10nt546-VNTR8/ND-VNTR8, IVS10nt546-VNTR8/R252W-VNTR8, R261Q-VNTR8/R261Q-VNTR8, R261Q-VNTR8/ND-VNTR8, and S67P-VNTR3/ R252W-VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study.
conclusionsThe present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546-VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting.
Indexed as
Identifiers
25705285PMC4305991W2123943257What OpenQuestion holds
Registered trials
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