(Q38329188)

English

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

scientific article published on May 1, 1992

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Europe PubMed Central

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2 September 2017

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1315718

12 September 2022

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

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

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10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

Ann-Christine Syvänen

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Syvänen AC

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2 September 2017

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T. Paunio

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Europe PubMed Central

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12 September 2022

S. Kiuru

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12 September 2022

V. Hongell

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12 September 2022

E. Mustonen

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12 September 2022

A. C. Syvänen

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Europe PubMed Central

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12 September 2022

M. Bengström

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12 September 2022

J. Palo

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12 September 2022

L. Peltonen

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12 September 2022

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12 September 2022

publication date

1 May 1992

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2 September 2017

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https://api.elsevier.com/content/article/PII:088875439290235K?httpAccept=text/xml

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10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

https://api.elsevier.com/content/article/PII:088875439290235K?httpAccept=text/plain

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10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

1 reference

Europe PubMed Central

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2 September 2017

13

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Europe PubMed Central

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2 September 2017

1

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Europe PubMed Central

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2 September 2017

237-239

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Europe PubMed Central

PubMed publication ID

2 September 2017

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein

1

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

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

4

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin

5

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

Mutation in gelsolin gene in Finnish hereditary amyloidosis

6

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

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

7

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

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

8

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types

10

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy

11

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

12

1 reference

10.1016/0888-7543(92)90235-K

https://api.crossref.org/works/10.1016/0888-7543(92)90235-K

4 December 2023

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10.1016/0888-7543(92)90235-K

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

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