(Q77647505)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9843084%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9843084%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

K Utsugisawa

1

1 reference

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7 December 2019

H Tohgi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9843084%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Y Nagane

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9843084%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

M Yamagata

4

1 reference

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7 December 2019

K Saito

5

1 reference

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7 December 2019

M Mihara

6

1 reference

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7 December 2019

publication date

1 December 1998

1 reference

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7 December 2019

1 reference

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7 December 2019

volume

21

1 reference

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7 December 2019

issue

12

1 reference

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7 December 2019

page(s)

1783-1785

1 reference

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A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

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Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

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/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199812%2921%3A12%3C1783%3A%3AAID-MUS24%3E3.0.CO%3B2-O

10.1002/(SICI)1097-4598(199812)21:12<1783::AID-MUS24>3.0.CO;2-O

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9843084%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference