Volume 12 (2024)
Volume 11 (2023)
Volume 10 (2022)
Volume 9 (2021)
Volume 8 (2020)
Volume 7 (2019)
Volume 6 (2018)
Volume 5 (2017)
Volume 4 (2016)
Volume 3 (2015)
Volume 2 (2014)
Volume 1 (2013)
Keywords = Mutation
Number of Articles: 9
Assessment and Molecular Docking of SARS-CoV-2 NSP3 and NSP12 Mutants in Iranian Patients in Golestan Province
Volume 10, Issue 7 , July 2022, , Pages 16370-16380
Abstract
Background: Molecular analysis of SARS-CoV-2 genome is important to predict viral pathogenicity. In addition to transmission, replication is a key factor in pathogenicity of the virus. ... Read MoreEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Volume 7, Issue 2 , February 2019, , Pages 9053-9060
Abstract
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction ... Read MoreGenetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Volume 6, Issue 2 , February 2018, , Pages 7033-7037
Abstract
BackgroundAutosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease.Case ReportIn the ... Read MoreAutosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
Volume 6, Issue 1 , January 2018, , Pages 6899-6902
Abstract
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive ... Read MoreA CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Volume 6, Issue 1 , January 2018, , Pages 6999-7002
Abstract
BackgroundsHypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. ResultsIn the present study, we reported ... Read MoreI-Cell Disease with GNPTAB Gene Mutation
Volume 5, Issue 12 , December 2017, , Pages 6261-6265
Abstract
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. ... Read MoreLipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Volume 5, Issue 10 , October 2017, , Pages 5839-5842
Abstract
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a ... Read MoreA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Volume 4, Issue 2 , February 2016, , Pages 1315-1318
Abstract
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy ... Read MoreAssociation of mtDNA mutation with Autism in Iranian patients
Volume 1, Issue 1 , August 2013, , Pages 39-43