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Titles listMutation nomenclature extensions and suggestions to describe complex mutations: a discussion
Titles listMutation nomenclature extensions and suggestions to describe complex mutations: a discussion
Scientific Article
unige:8713 
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion |
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| Authors | ||
| Published in | Human mutation. 2000, vol. 15, no. 1, p. 7-12 | |
| Abstract | Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations. | |
| Keywords | Base Sequence — Codon — Dna — Exons — Genome, Human — Humans — Mutation — Polymorphism, Genetic — Proteins/genetics — RNA/genetics — Terminology as Topic | |
| Identifiers | PMID: 10612815 | |
| Full text |
Article - Limited access to UNIGE Other version: http://www3.interscience.wiley.com/journal/68503056/abstract |
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| Structures | ||
| Citation (ISO format) | DEN DUNNEN, J. T., ANTONARAKIS, Stylianos. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. In: Human mutation, 2000, vol. 15, n° 1, p. 7-12. https://archive-ouverte.unige.ch/unige:8713 |
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