- Institution/s: Universidad de Valladolid, Université d'Artois
- Project: Diccionario Terminológico de Genética (Eurogene)
- Identification number: 94
- Subdomains: Studies of chromatin, Studies of DNA, Studies of RNA, Techniques
- Author/s: Carmen CUÉLLAR LÁZARO, Isabel COMAS MARTÍNEZ, Marie-Hélène GARCIA, Marta SERNA GIL
- Creation / modification date: 02-03-2014
- Term: insertion mutation
- Gramatical category: s
- Definition: Chromosome abnormality in which material from one chromosome is inserted into another non homologous chromosome.
- Context: The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr.
- Weighting mark: nor
- Sources:
- Term: EMERY, A.E.H. y MUELLER, R.F. (1992) Elements of Medical Genetics, Churchill Livingstone: New York. 8th Edition.
- Definition: National Library of Medicine (2013). "Insertion". Recuperado el 25 de abril de 2013 de: http://ghr.nlm.nih.gov/glossary=insertion
- Context: Booth, D. R., Tan, S. Y., Booth, S. E., Tennent, G. A., Hutchinson, W. L., Hsuan, J. J., ... & Pepys, M. B. (1996). Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. Journal of Clinical Investigation, 97, 2714. Recuperado el 26 de abril de 2013 de: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC507363/
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