(Q43900133)

27 November 2017

title

Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25. (English)

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27 November 2017

Masahide Yazaki

1

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27 November 2017

Taro Yamashita

2

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27 November 2017

John C Kincaid

3

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27 November 2017

John R Scott

4

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27 November 2017

Raymond G Auger

5

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27 November 2017

Peter J Dyck

6

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27 November 2017

Merrill D Benson

7

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27 November 2017

publication date

1 February 2002

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27 November 2017

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27 November 2017

volume

25

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27 November 2017

issue

2

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27 November 2017

page(s)

244-250

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

27 November 2017

cites work

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A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected

21 January 2018

1 reference

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

21 January 2018

1 reference

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

21 January 2018

1 reference

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

21 January 2018

1 reference

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

21 January 2018

1 reference

Transthyretin amyloidosis

21 January 2018

1 reference

A new test for detection ot the His 58 variant transthyretin allele in hereditary amyloidosis; creation of diagnostic restriction endonuclease recognition sites by PCR based mutagenesis

21 January 2018

1 reference

Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30)

21 January 2018

1 reference

Haplotype analysis of the transthyretin gene: Evidence for multiple recurrence of the Met30 mutation in the Caucasian population

21 January 2018

1 reference

Haplotype analysis of His 58, Ala 60 and Tyr 77 types of familial amyloidotic polyneuropathy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.10032

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27 November 2017

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