Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy

FEBS Letters

Strocchi, Paola¹  Cambi, Franca²  Tang, Xue-Ming² 

[1] Department of Pharmacology, University of Bologna, Via Irnerio 48, Bologna 40126, Italy;Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA

关键词: Transthyretin;    Familial amyloidotic polyneuropathy;    Polymerase chain reaction;    DNA sequencing;   

DOI  :  10.1016/0014-5793(95)00046-C

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstrate the presence of a Met³⁰ mutation. The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagnosis of individuals with partial symptoms is discussed.

【 授权许可】

Unknown