Point Mutation

Point mutation is a genetic alteration in a sequence of DNA, typically caused by a single base pair substitution, deletion, or insertion. These changes usually result in the formation of an incorrect protein and can be associated with diseases such as cystic fibrosis, sickle cell anemia and Duchenne muscular dystrophy. Point mutations can also be beneficial and are frequently used by scientists to study gene function and gain insight into evolutionary processes. Additionally, they may also be used in biotechnology applications such as gene therapy or creating genetically modified organisms. Point mutations are a major component of genetic research, with many studies utilizing them to identify new genes and understand the function of proteins.

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Related Articles

16 article(s) found

Branch Retinal Vein Occlusion in Factor V Leiden Mutation

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Skeletal Muscle Calcium Channel Mutation R528G: Enhanced Channel Inactivation and Omega-Current at Hyperpolarization Contribute to Hypokalemic Periodic Paralysis.

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The Identification of Somatic Mutations in Interferon-G Signal Molecules in Human Uterine Leiomyosarcoma

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Can Poor Hydration Amongst Older Hospitalized People be Identified by Single Point Total Body Water Assessment? – A Pilot Study

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Recurrent branch retinal arterial occlusions associated with plasminogen activator inhibitor-1 mutation

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Melanoma of the Breast with Smoothened (SMO) Mutation: Case Report and review of the Literature

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Transmutation of Sweat Glands - Eccrine Porocarcinoma

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Characterization of rpoB Gene Mutations Associated with Rifampicin Resistance in Multidrug Resistant Tuberculosis Patients Co-infected with HIV from Southern India.

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Genetic-Mathematical Modelling of Mutational Processes in a Population

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An Algorithm to Predict the Possible SARS-CoV-2 Mutations

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A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

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Targeting Mutational Landscape of TP53 in patients diagnosed with Oral Cancer living in Senegal

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Prolonged survival of Diamond-Blackfan anemia and RPS19 mutation: an observation in Togo

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A Trio Study Showing Novel Gene Mutation In LAMB3 Causing Junctional Epidermolysis Bullosa (Intermediate/ Severe)

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Understanding Inherited Bleeding Disorders: Genetic Mutations in Blood Coagulation Factors and Regulatory Proteins

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Disruption of Hydrogen Bonding Network Decreases Catalytic Diversity of Chloroperoxidase via Abolishing Both Chlorination and Dismutation Activities

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