Nomenclature

HUGO Mutation Database Initiative

Cystic Fibrosis Mutation Database

Standard mutation nomenclature in molecular diagnostics - Practical and educational challenges
Ogino S, Gulley M, den Dunnen JT, Wilson RB and the Association for molecular pathology training and education committee, Journal of Molecular Diagnostics, 2007, 9:1-6 (PDF, 418KB)

Standardizing mutation nomenclature: why bother?
den Dunnen JT, Paalman MH, Human Mutation, 2003, 22:181-182 (PDF, 67KB)

Mutation nomenclature extensions and suggestions to describe complex mutations
den Dunnen JT, Antonarakis SE, Human Mutation, 2000, 15:7-12 (PDF, 204KB)

Contact Home

CF EQA Scheme

Username		Log In
Password

1. Forgotten Password?
2. New Participant

1. CF EQA scheme process
2. CF Network history
3. Frequently Asked Questions

Education

1. Example reports
2. CF manuals for patients
3. Risk calculation
4. Nomenclature
5. Quality control
6. Epidemiology
7. Detection assays
8. What is Cystic Fibrosis?

Useful links

1. Other EQA providers
2. CF related Organizations
3. Websites of interest