Nalaganje...
Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report
BACKGROUND: To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were co...
Shranjeno v:
| izdano v: | BMC Neurol |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2020
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7218613/ https://ncbi.nlm.nih.gov/pubmed/32404070 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01770-9 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|