MOLECULAR DIAGNOSIS OF TRANSTHYRETIN MET(30) MUTATION IN AN ITALIAN FAMILY WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

Authors
STROCCHI P TANG XM CAMBI F
Citation
P. Strocchi et al., MOLECULAR DIAGNOSIS OF TRANSTHYRETIN MET(30) MUTATION IN AN ITALIAN FAMILY WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY, FEBS letters, 359(2-3), 1995, pp. 203-205
Citations number
15
Categorie Soggetti
Biophysics,Biology
Journal title
FEBS letters → ACNP
ISSN journal
00145793
Volume
359
Issue
2-3
Year of publication
1995
Pages
203 - 205
Database
ISI
SICI code
0014-5793(1995)359:2-3<203:MDOTMM>2.0.ZU;2-B
Abstract
We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstr ate the presence of a Met(30) mutation, The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagn osis of individuals with partial symptoms is discussed.