(Q57232814)

1

object named as

Albert de la Chapelle

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author name string

Ritva Tolvanen

2

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Gudrun Boysen

3

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Jiri Santavy

4

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Liesbeth Bleeker-Wagemakers

5

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C.P.J. Maury

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

6

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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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page(s)

157-160

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issue

2

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exact match

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cites work

Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Mutation in gelsolin gene in Finnish hereditary amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

21 January 2018

Inherited amyloidosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Meretoja syndrome. Lattice dystrophy of the cornea with hereditary generalized amyloidosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

[Neurohistological study of a case of reticular corneal dystrophy].

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Nucleotide sequence of pig plasma gelsolin

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

A comprehensive set of sequence analysis programs for the VAX

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Creation of amyloid fibrils from mutant Asn187 gelsolin peptides

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021

Simplified template preparation and improved direct sequencing using Taq polymerase

1 reference

https://api.crossref.org/works/10.1038%2FNG1092-157

7 January 2021