(Q47590416)

4 February 2018

title

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations (English)

1 reference

4 February 2018

Laura Obici

7

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Helen J Lachmann

object named as

Helen J Lachmann

4

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author name string

Dorota M Rowczenio

1

1 reference

4 February 2018

Islam Noor

2

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4 February 2018

Julian D Gillmore

3

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4 February 2018

Carol Whelan

5

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4 February 2018

Philip N Hawkins

6

1 reference

4 February 2018

Per Westermark

8

1 reference

4 February 2018

Gilles Grateau

9

1 reference

4 February 2018

Ashutosh D Wechalekar

10

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4 February 2018

publication date

4 August 2014

1 reference

4 February 2018

published in

Human Mutation

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4 February 2018

volume

35

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4 February 2018

issue

9

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4 February 2018

page(s)

E2403-12

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4 February 2018

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Variant apolipoprotein AI as a major constituent of a human hereditary amyloid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Human lysozyme gene mutations cause hereditary systemic amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

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%2FHUMU.22619

Amyloid fibril protein nomenclature: 2012 recommendations from the Nomenclature Committee of the International Society of Amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Hereditary renal amyloidosis with a novel variant fibrinogen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Transthyretin amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Tabulation of human transthyretin (TTR) variants, 2003

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

Hereditary renal amyloidosis associated with variant lysozyme in a large English family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

7 January 2021

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

7 January 2021

Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

7 January 2021

Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22619

7 January 2021

Identifiers

DOI

10.1002/HUMU.22619

1 reference

4 February 2018

1 reference

4 February 2018