C-SUBSTITUTION FOR T-SUBSTITUTION AT CODON-108 - THE FIRST IDENTIFIEDSILENT MUTATION IN THE TRANSTHYRETIN GENE

Authors
PALHA JA MOREIRA P WISNIEWSKI T FRANGIONE B SARAIVA MJ
Citation
Ja. Palha et al., C-SUBSTITUTION FOR T-SUBSTITUTION AT CODON-108 - THE FIRST IDENTIFIEDSILENT MUTATION IN THE TRANSTHYRETIN GENE, AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 4(1), 1997, pp. 52-53
Citations number
4
Categorie Soggetti
Biology
Journal title
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION → ACNP
ISSN journal
13506129
Volume
4
Issue
1
Year of publication
1997
Pages
52 - 53
Database
ISI
SICI code
1350-6129(1997)4:1<52:CFTAC->2.0.ZU;2-J
Abstract
Transthyretin (TTR) is a 55 kDA tetrameric protein synthesized by the liver and the choroid plexus that binds thyroxine and retinol-binding protein. More than fifty mutations have been identified in the TTR gen e, the majority of them associated with hereditary amyloidosis.(1) Thi s study reveals the first silent mutation on the TTR gene:Ala108.