Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187 (Q57232814)

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object named as

Albert de la Chapelle

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author name string

Ritva Tolvanen

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Gudrun Boysen

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Jiri Santavy

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Liesbeth Bleeker-Wagemakers

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C.P.J. Maury

https://scigraph.springernature.com/pub.10.1038/ng1092-157

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language of work or name

English

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publication date

October 1992

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published in

Nature Genetics

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volume

2

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issue

2

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page(s)

157-160

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exact match

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cites work

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Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

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Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin

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Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain

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Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II

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Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family

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Solid-phase minisequencing test reveals Asp187 → Asn (G654 → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

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Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

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