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Molecular diagnosis of transthyretin Met 30 mutation in an Italian family with familial amyloidotic polyneuropathy
Author(s) -
Strocchi Paola,
Tang Xue-Ming,
Cambi Franca
Publication year - 1995
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(95)00046-c
Subject(s) - transthyretin , polyneuropathy , mutation , medicine , identification (biology) , genetics , gene , biology , botany
We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstrate the presence of a Met 30 mutation. The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagnosis of individuals with partial symptoms is discussed.