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Journal of Genetic Mutation Disorders (JGMD) is an international open access, peer-reviewed journal for the publication of advancements and for dissemination of scientific knowledge on Genetic mutation disorders by covering all aspects like Gene therapy, hereditary genetic disorders, Medical Genetics, Clinical Genetics etc., making it to be visible for various researchers.
Journal of Genetic Mutation Disorders is using online manuscript submission, review and tracking systems for quality and quick review processing. Review processing is performed by the editorial board members of Journal of Genetic Mutation Disorders or outside experts; at least two independent reviewer's approval followed by editor approval is required for acceptance of any citable manuscript.
Recent Article
Spinal Muscular Atrophy-Type1, Unraveling the tapestry from highly inbred region of North India
Spinal muscular atrophy is an autosomal recessive disorder characterized by degeneration of alpha motor in anterior horn cells of brain and spinal cord, which results in muscular atrophy, hypotonia, fasciculations, areflexia, paralysis and even death in most severe cases.
E. Coli Bacteria and Its Transcription Regulation
Escherichia coli is the commonest Bacteria for urinary tract Infection do regulate its transcription predominantly at the stage of initiation by repressors and/or activators.
Mthfr c677t, Homocysteine and Risk of Splanchnic Vein Thrombosis: A Pooled Analysis of Published Epidemiological Studies
This meta-analysis aimed to comprehensively assess the literature examining a possible link between the methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation and homocysteine and the risk of splanchnic vein thrombosis (SVT).
Two Novel Cases of Marfan Syndrome with FBN1 whole Gene Deletion: Laboratory Assay and Cases Review
Marfan syndrome is a hereditary disorder of connective tissue mainly characterized by abnormalities in the cardiovascular, skeletal and ocular systems
Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy
Juvenile idiopathic epilepsy (JIE) is a self-limiting neurological disorder with a suspected genetic predisposition affecting young Arabian foals of the Egyptian lineage.
A Novel Hemizygous Mutation of HCFC1 Causes X-Linked Recessive Gene Inherited Developmental Delay in a Chinese Family
Developmental delay (DD) / intellectual disability (ID) is considered one of the most genetically heterogeneous human diseases. Herein, we described a Chinese boy affected by DD/ID with 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and 3-hydroxy3-methylglutaric aciduria (3-HMG), which associated with a novel missense hemizygous mutation, c.4442C>T, within the acidic domain of HCFC1 gene identified by whole exon sequencing (WES) and validated by Sanger sequencing.
A Novel Coenzyme Q8A Mutation in a Case with Juvenile-Onset Coenzyme Q10D4: Case Report and Literature Review
Primary coenzyme Q10 deficiency-4 (CoQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Molecular pathology responsible for clinical findings is mitochondrial respiratory chain dysfunction.
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GUO-ZHANG ZHU
Professor, Department of Biological Sciences, Marshall University, United States
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HASSEN CHAABANI
Professor, Human Genetics & Biological Anthropology, University of Monastir, Tunisia
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BASSAM R. ALI
Professor, Department of Pathology College of Medicine and Health Sciences, UAE University, United Arab Emirates
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BIDYUT ROY
Professor, Human Genetics Unit, Indian Statistical Institute, India
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GUOSHUN WANG
Associate Professor, Departments of Microbiology and Immunology, Genetics, and Medicine, Louisiana State University Health Sciences Center, United States
