Related Experiment Videos
Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis
D R Jacobson1, T Pan, R A Kyle
1Department of Medicine, New York University and Research Service, New York Veterans Administration Medical Center, New York 10010, USA.
Human Mutation
|January 1, 1997
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
A novel application for 222Rn emanation standards: radon-cryptophane host chemistry.
Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine·2012
Marked systemic amyloid angiopathy in patients with val 107 transthyretin mutation.
Journal of clinical neuromuscular disease·2008
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
Proceedings of the National Academy of Sciences of the United States of America·2001
Abnormal immunoglobulin synthesis in monoclonal immunoglobulin light chain and light and heavy chain deposition disease.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2001
Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis.
Laboratory investigation; a journal of technical methods and pathology·2001
Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.
Human mutation·2026
Mixed Connective Tissue Disease (MCTD): A Rare Presentation of Probable Central Nervous System (CNS) Vasculitis.
Case reports in neurological medicine·2026