Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis
- 31 August 1992
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 187 (1) , 460-466
- https://doi.org/10.1016/s0006-291x(05)81516-5
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Health, Labour and Welfare (03265212)
- Ministerie van Onderwijs, Cultuur en Wetenschap
This publication has 18 references indexed in Scilit:
- Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)Biochemical and Biophysical Research Communications, 1990
- A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling casesBiochemical and Biophysical Research Communications, 1990
- A new mutation causing familial amyloidotic polyneuropathyBiochemical and Biophysical Research Communications, 1989
- Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplificationGenomics, 1989
- Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathyBiochemical and Biophysical Research Communications, 1988
- Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.Journal of Clinical Investigation, 1988
- Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).Journal of Clinical Investigation, 1986
- Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.Journal of Clinical Investigation, 1986
- Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)Biochemical and Biophysical Research Communications, 1983
- Polymorphism of human plasma thyroxine binding prealbuminBiochemical and Biophysical Research Communications, 1983