(Q61172439)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951260%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis (English)

1 reference

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29 October 2019

5

1 reference

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29 October 2019

author name string

A Ferlini

1

1 reference

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29 October 2019

M C Patrosso

2

1 reference

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29 October 2019

M Repetto

3

1 reference

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29 October 2019

A Frattini

4

1 reference

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29 October 2019

S Fini

6

1 reference

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29 October 2019

F Salvi

7

1 reference

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29 October 2019

P Vezzoni

8

1 reference

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29 October 2019

A Forabosco

9

1 reference

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29 October 2019

publication date

1 January 1994

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29 October 2019

1 reference

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29 October 2019

volume

4

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29 October 2019

issue

1

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29 October 2019

page(s)

61-64

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Transthyretin Leu 68 in a form of cardiac amyloidosis

29 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Inherited amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Hereditary amyloidosis and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Recent advances in the molecular pathology of familial amyloid polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040110

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951260%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference