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

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 Lett

journal_title

FEBS letters

authors

Strocchi P,Tang XM,Cambi F

doi

10.1016/0014-5793(95)00046-c

subject

Has Abstract

pub_date

1995-02-13 00:00:00

pages

203-5

issue

2-3

eissn

0014-5793

issn

1873-3468

pii

0014-5793(95)00046-C

journal_volume

359

pub_type

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