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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 7/11/2005 |
Symbol | FACM |
Location | 18q12.1 |
Name | familal amyloid, cardiomyopathy |
Other name(s) | amyloidosis III, cardiomyopathic |
Corresponding gene | TTR |
related resource | Fanconi Anaemia Mutation Database |
Other symbol(s) | FAC |
Main clinical features | Danish type (TTR deposit) |
Genetic determination | autosomal dominant |
Function/system disorder | connective tissue |
Type | disease |
Gene product |
Name | transthyretin (prealbumin) |
Remark(s) |