Abstract:
: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.
journal_name
FEBS Lettjournal_title
FEBS lettersauthors
Strocchi P,Tang XM,Cambi Fdoi
10.1016/0014-5793(95)00046-csubject
Has Abstractpub_date
1995-02-13 00:00:00pages
203-5issue
2-3eissn
0014-5793issn
1873-3468pii
0014-5793(95)00046-Cjournal_volume
359pub_type
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