[HTML][HTML] Association between PAH mutations and VNTR alleles in the West Azerbaijani PKU patients
Conclusions: The 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 …
(Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is …
[PDF][PDF] Phenylketonuria from genetics to clinics: An Iranian prospect
Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid
metabolism. The disease is caused mainly by mutations in the phenylalanine hydroxylase …
metabolism. The disease is caused mainly by mutations in the phenylalanine hydroxylase …
Molecular phylogenetic study of the Iranians based on polymorphic markers
The application of polymorphic markers in construction of phylogenetic trees has been
documented. Five polymorphic markers located in the PAH gene region including PAH-BglII …
documented. Five polymorphic markers located in the PAH gene region including PAH-BglII …
CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome
LE Chamgordani, N Ebrahimi, F Amirmahani… - Journal of Genetics, 2020 - Springer
Nephrotic syndrome (NS) is considered as a primary disease of the kidney that represents a
heterogeneous group of glomerular disorders occurring mainly in children. It is generally …
heterogeneous group of glomerular disorders occurring mainly in children. It is generally …
[HTML][HTML] Frequency of the VNTR-polymorphisms at the PAH gene in the Iranian Azeri Turkish patients with phenylketonuria
Conclusion: It is concluded that this position is heterozygous and there were statistically
significant differences between patients and controls concerning the VNTR8/VNTR8 …
significant differences between patients and controls concerning the VNTR8/VNTR8 …
[HTML][HTML] The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients
Background: The analysis of haplotypes/mini-haplotypes in the PAH gene has been used as
an informative tool in several genetic anthropology studies. Considering the notion that …
an informative tool in several genetic anthropology studies. Considering the notion that …
Phylogenetic relationship analysis of Iranians and other world populations using allele frequencies at 12 polymorphic markers
The estimation of genetic distance between populations could improve our viewpoint about
human migration and its genetic origin. In this study, we used allele frequency data of 12 …
human migration and its genetic origin. In this study, we used allele frequency data of 12 …
BanI/D13S141/D13S175 Represents a Novel Informative Haplotype at the GJB2 Gene Region in the Iranian Population
H Rezaei, S Vallian - Cellular and molecular neurobiology, 2011 - Springer
Non-syndromic sensorineural hearing loss (NSHL) represents the most common cause of
hearing loss in the Iranian patients. In view of the large numbers of mutations identified in …
hearing loss in the Iranian patients. In view of the large numbers of mutations identified in …
Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population
M Mojtabavi Naeini, H Mesrian Tanha… - Genetic Testing and …, 2014 - liebertpub.com
Background and Aims: SLC26A4 gene mutations are the second currently identifiable
genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations …
genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations …
[HTML][HTML] Genetic diversity and balancing selection within the human phenylalanine hydroxylase (PAH) gene region in Iranian population
Background: Genetic diversity of three polymorphic markers in the phenylalanine
hydroxylase (PAH) gene region including PvuII (a), PAHSTR and MspI were investigated …
hydroxylase (PAH) gene region including PvuII (a), PAHSTR and MspI were investigated …