A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker (Q68235421)

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23 September 2019

title

A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker (English)

1 reference

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23 September 2019

author name string

Saeki Y

1

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23 September 2019

Ueno S

2

1 reference

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23 September 2019

Takahashi N

3

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23 September 2019

Soga F

4

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23 September 2019

Yanagihara T

5

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23 September 2019

language of work or name

English

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publication date

1 August 1992

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23 September 2019

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23 September 2019

volume

308

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23 September 2019

issue

1

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23 September 2019

page(s)

35-37

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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

23 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

Structural comparisons between mouse and human prealbumin

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

Recent advances in the molecular pathology of familial amyloid polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2892%2981044-M

10.1016/0014-5793(92)81044-M

21 January 2018

Identifiers

DOI

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23 September 2019

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