(Q48031860)

7 February 2018

title

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (English)

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7 February 2018

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M C Patrosso

1

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7 February 2018

F Salvi

2

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7 February 2018

D De Grandis

3

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7 February 2018

P Vezzoni

4

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7 February 2018

D R Jacobson

5

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7 February 2018

A Ferlini

6

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7 February 2018

publication date

1 May 1998

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7 February 2018

American Journal of Medical Genetics Part A

published in

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7 February 2018

volume

77

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7 February 2018

issue

2

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7 February 2018

page(s)

135-138

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7 February 2018

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis

cites work

1 reference

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

21 January 2018

1 reference

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Recent advances in the molecular pathology of familial amyloid polyneuropathy

21 January 2018

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Transthyretin amyloidosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings

21 January 2018

1 reference

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Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences

21 January 2018

1 reference

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Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19980501)77:2<135::AID-AJMG5>3.0.CO;2-R

21 January 2018

Identifiers

DOI

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7 February 2018

PubMed ID

9605286

1 reference

7 February 2018