Hereditary renal amyloidosis with a novel variant fibrinogen. (Q34126123)

31 July 2017

Hereditary renal amyloidosis with a novel variant fibrinogen. (English)

1 reference

31 July 2017

Uemichi T

1

1 reference

31 July 2017

Liepnieks JJ

series ordinal

2

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31 July 2017

Benson MD

series ordinal

3

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31 July 2017

language of work or name

English

0 references

publication date

1 February 1994

1 reference

Journal of Clinical Investigation

31 July 2017

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31 July 2017

93

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31 July 2017

731-736

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31 July 2017

2

1 reference

Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Human lysozyme gene mutations cause hereditary systemic amyloidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Immunochemical quantitation of antigens by single radial immunodiffusion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Mutation in gelsolin gene in Finnish hereditary amyloidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Amino acid sequence of a kappa I primary (AL) amyloid protein (AND).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Nucleotide sequences of the three genes coding for human fibrinogen

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

5 July 2018

Inherited amyloidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Familial renal amyloidosis. Case reports, literature review and classification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

The amino acid sequence of the alpha-chain of human fibrinogen

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Polymorphism of human plasma thyroxine binding prealbumin.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293912

Amyloid nephropathy of Ostertag: report of a kindred

28 October 2018

1 reference

12 December 2020

Binding of soluble form of fibroblast surface protein, fibronectin, to collagen

1 reference

12 December 2020

Studies on the pathogenesis of a familial form of renal amyloidosis

1 reference

12 December 2020

Familial amyloidosis of Ostertag

1 reference

12 December 2020

Familial renal amyloidosis: case reports and genetic studies

1 reference

12 December 2020

Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)

1 reference

12 December 2020

Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases

1 reference

12 December 2020

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

1 reference

12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 50-1987. A 43-year-old woman with hepatic failure after renal transplantation because of amyloidosis

1 reference

12 December 2020

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1 reference

12 December 2020

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

1 reference

12 December 2020

[Rapid physiological coagulation method in determination of fibrinogen]

1 reference

12 December 2020

Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry

1 reference

12 December 2020

The polymerization of fibrinogen Dusart (A alpha 554 Arg-->Cys) after removal of carboxy terminal regions of the A alpha-chains

1 reference

12 December 2020

Plasminogen: Purification from Human Plasma by Affinity Chromatography

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117027

1 reference

31 July 2017

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31 July 2017

1 reference