Jesus Cabral-Macias Leopoldo A Garcia-Montaño Mario Pérezpeña-Díazconti Marisa-Cruz Aguilar Guillermo Garcia Carlos I Vencedor-Meraz Enrique O Graue-Hernandez Oscar F Chacón-Camacho Juan C Zenteno
Mol Vis
2020 May 2;26:345-354.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/32368002/
Amyloid Neuropathies, Familial / genetics Gelsolin / genetics
Amyloid Neuropathies, Familial / genetics Gelsolin / genetics Case Reports Adult Amyloid / metabolism Amyloid Neuropathies, Familial / blood Amyloid Neuropathies, Familial / metabolism Amyloid Neuropathies, Familial / pathology Biopsy Corneal Dystrophies, Hereditary / genetics Cutis Laxa / genetics Eyelids / cytology Eyelids / metabolism Eyelids / pathology Family Female Gelsolin / metabolism Heterozygote High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mutation Nervous System Malformations / genetics Pedigree Phylogeny Protein Stability Amyloid Gelsolin
PMC7195602
32368002
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation
2020