Title : Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

Pub. Date : 1994 Dec

PMID : 7881424






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 All the analyzed patients are found to carry a nucleotide substitution of A or T for G654 in their gelsolin gene, which at the protein level results in the conversion of the 187 amino acid residue, aspartic acid, to asparagine or tyrosine, respectively. Aspartic Acid gelsolin Homo sapiens