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| Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion |
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| Author(s): den Dunnen JT, Antonarakis SE |
| Source: HUMAN MUTATION Volume: 15 Issue: 1 Pages: 7-12 Published: 2000 |
| Times Cited: 557 References: 4 |
| 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. Hum Mutat 15:7-12, 2000. (C) 2000 Wiley Liss, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: den Dunnen, JT (reprint author), Leiden Univ, Med Ctr, MGC, Dept Human & Clin Genet, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands |
Addresses:
1. Leiden Univ, Med Ctr, MGC, Dept Human & Clin Genet, NL-2333 AL Leiden, Netherlands
2. Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC, 605 THIRD AVE, NEW YORK, NY 10158-0012 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 271VE |
| ISSN: 1059-7794 |
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