SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
The Royal Free Hospital · University College London · +3 more institutions
Indexed incrossrefpubmed
Abstract
No abstract available for this paper.
Citation impact
752
total citations
- FWCI
- 18.98
- Percentile
- 100%
- References
- 37
Citations per year
Authors
11- CFCaroline Fertleman
The Royal Free Hospital, University College London, Royal College of Paediatrics and Child Health
- MDMark D. Baker
University College London
- KAKeith A. Parker
The Royal Free Hospital, University College London, Royal College of Paediatrics and Child Health
- SLS. Louise Moffatt
The Royal Free Hospital, University College London, Royal College of Paediatrics and Child Health
- FEFrances Elmslie
The Royal Free Hospital, University College London, Royal College of Paediatrics and Child Health
Topics & keywords
Topics
Keywords
- Missense mutation
- Channelopathy
- Genetics
- Allele
- Erythromelalgia
- Phenotype
- Sodium channel
- Biology
UN Sustainable Development Goals
- Good health and well-being
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