Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic
| Autor: | Tomas Pika, Patrik Flodr, Vlastimil Scudla, Pavla Latalova, Vladimir Mejzlik, Helena Hulkova |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Czech
Pathology medicine.medical_specialty Disease Pharmacology medicine.disease_cause Medicine Genetics(clinical) Pharmacology (medical) Genetics (clinical) Medicine(all) Mutation biology business.industry Incidence (epidemiology) Amyloidosis nutritional and metabolic diseases General Medicine Familial amyloid neuropathy medicine.disease Human genetics language.human_language Transthyretin Poster Presentation biology.protein language business |
| Zdroj: | Orphanet Journal of Rare Diseases |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-10-s1-p24 |
| Popis: | Background Hereditary amyloidosis represents approximately 4% of the total cases of amyloidoses. The most frequent familial type is caused by deposition of mutated transthyretin (TTR, prealbumin). So far it has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is also characterized by a clinical picture of the disease. The most common variant is a neuropathic disease. Characteristic feature is an endemic occurrence with very low incidence in the Central Europe countries. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink