Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis (Q44783282)

6 December 2017

title

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1520336

4 October 2022

author name string

H. Nishi

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1520336

4 October 2022

A. Kimura

2

1 reference

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4 October 2022

H. Harada

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1520336

4 October 2022

Y. Hayashi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1520336

4 October 2022

M. Nakamura

5

1 reference

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4 October 2022

T. Sasazuki

6

1 reference

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4 October 2022

language of work or name

English

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publication date

1 August 1992

1 reference

6 December 2017

31 August 1992

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1520336

Biochemical and Biophysical Research Communications

4 October 2022

published in

1 reference

6 December 2017

volume

187

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6 December 2017

issue

1

1 reference

6 December 2017

page(s)

460-466

1 reference

Polymorphism of human plasma thyroxine binding prealbumin.

6 December 2017

cites work

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

7 January 2021

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Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy

7 January 2021

1 reference

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Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

7 January 2021

1 reference

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Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

7 January 2021

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Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis

7 January 2021

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

7 January 2021

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A new mutation causing familial amyloidotic polyneuropathy

7 January 2021

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A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases

7 January 2021

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

7 January 2021

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A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin

7 January 2021

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Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy

7 January 2021

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Structure of the chromosomal gene for human serum prealbumin

7 January 2021

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

7 January 2021

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 January 2021

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Polymerase chain reaction--single-strand conformation polymorphism analysis of polymorphism in DPA1 and DPB1 genes: a simple, economical, and rapid method for histocompatibility testing

7 January 2021

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A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

7 January 2021

1 reference

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Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques

7 January 2021

1 reference

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10.1016/S0006-291X(05)81516-5

7 January 2021

Identifiers

DOI

1 reference

6 December 2017

1 reference