Germline Mutation

Germline mutation is a genetic mutation that occurs during the formation of gametes or reproductive cells (sperm, eggs) and is passed from parent to child. It is a permanent change to the germline, passed on from generation to generation, and can be the cause of genetic diseases or abnormalities. It can also increase the risk of cancer in adults. Germline mutations have been studied to understand the genetic basis of diseases and to develop therapeutic strategies for their treatment. They have also been used in genetic screening for inherited diseases and for gene therapy.

← International Journal of Cell

Related Articles

15 article(s) found

Branch Retinal Vein Occlusion in Factor V Leiden Mutation

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

Transmutation of Sweat Glands - Eccrine Porocarcinoma

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

Genetic-Mathematical Modelling of Mutational Processes in a Population

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML

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

Full-text HTML Download PDF Download XML