Related Experiment Video
Updated: Jul 10, 2026

Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
A new ATTR Phe64Ile mutation with late-onset multiorgan involvement
Roberto Tarquini1, Federico Perfetto, Franco Bergesio
1Dipartimento di Medicina Interna, Azienda Universitaria Ospedaliera Careggi, Florence, Italy.
Abstract:
We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Huntington Disease l: Introduction
Pleiotropy
Pulmonary Hypertension: Classification and Pathogenesis
There are various classifications for PH, each relating to different underlying causes and also...

