(Q30936613)

27 June 2017

A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis (English)

1 reference

27 June 2017

carpal tunnel syndrome

1 reference

Nadine Magy

1

1 reference

27 June 2017

Juris J Liepnieks

2

1 reference

27 June 2017

Helder Gil

3

1 reference

27 June 2017

Bernadette Kantelip

4

1 reference

27 June 2017

Jean-Louis Dupond

5

1 reference

27 June 2017

Barbara Kluve-Beckerman

6

1 reference

27 June 2017

Merrill D Benson

7

1 reference

27 June 2017

1 March 2003

1 reference

27 June 2017

1 reference

27 June 2017

10

1 reference

27 June 2017

1

1 reference

27 June 2017

29-33

1 reference

Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer

27 June 2017

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

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/10.3109%2F13506120308995254

Human lysozyme gene mutations cause hereditary systemic amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Hereditary cerebral haemorrhage with amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Fibril in senile systemic amyloidosis is derived from normal transthyretin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Comparison of two methods of high-molecular-weight DNA isolation from human leucocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Revised transthyretin Ile 122 allele frequency in African-Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

Therapeutic advances demand accurate typing of amyloid deposits

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13506120308995254

10.3109/13506120308995254

21 January 2018

Identifiers

DOI

1 reference

release_kl5s24ijdjaubdvgt74oxpqmey

27 June 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kl5s24ijdjaubdvgt74oxpqmey

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference