Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene
Author:
Publisher
Wiley
Subject
Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1016/0014-5793(90)80510-P/fullpdf
Reference19 articles.
1. Hereditary amyloidosis
2. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy
3. Finnish hereditary amyloidosis
4. Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein
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1. Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy;European Journal of Ophthalmology;2024-04-15
2. Development of an in vitro aggregation assay for long synthetic polypeptide, amyloidogenic gelsolin fragment AGelD187N 173–242;PLOS ONE;2023-08-17
3. The folding and misfolding mechanisms of multidomain proteins;Medicine in Drug Discovery;2022-06
4. Hearing problems in patients with hereditary gelsolin amyloidosis;Orphanet Journal of Rare Diseases;2021-10-24
5. A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type;Human Mutation;2021-05-11
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