Article
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
Journal of medical genetics - 1 Jan 1998
Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N
Abstract excerpt
In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected chi...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Amyloid Neuropathies
- Bias
- Child
- Female
- Heterozygote
- Humans
- Japan
- Male
- Middle Aged
- Mutation
- Parity
- Pedigree
- Penetrance