Loading...
Please wait, while we are loading the content...
Similar Documents
Genotype-Phenotype Correlations and Management in Transthyretin (TTR) Related Amyloidosis
| Content Provider | Scilit |
|---|---|
| Author | Ando, Y. |
| Copyright Year | 2004 |
| Description | Familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis and it has been identified amyloidogenic mutated transthyretin (ATTR), apolipoprotein A-I (AApoA-I) and gelsolin (Agel) as FAP amyloidogenic proteins. Among qualified 100 point of mutation or deletion in TTR gene, 13 mutations are nonpathologic forms. Other abnormal TTRs induce FAP which can be classified into several phenotypes, such as neuropathic, oculoleptomeningeal, and cardiac types. Several types of ATTR mutants do not show neuropathy although they are classified into FAP. Book Name: Amyloid and Amyloidosis |
| Related Links | https://content.taylorfrancis.com/books/download?dac=C2010-0-33252-7&isbn=9780429125249&doi=10.1201/9781420037494-105&format=pdf |
| Ending Page | 302 |
| Page Count | 3 |
| Starting Page | 300 |
| DOI | 10.1201/9781420037494-105 |
| Language | English |
| Publisher | Informa UK Limited |
| Publisher Date | 2004-11-29 |
| Access Restriction | Open |
| Subject Keyword | Book Name: Amyloid and Amyloidosis Clinical Neurology Polyneuropathy Apolipoprotein Transthyretin Amyloidogenic |
| Content Type | Text |
| Resource Type | Chapter |
