(Q44691796)

English

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

scientific article published in March 2004

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14673473%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14673473%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

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1 reference

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Maria João Saraiva

5

1 reference

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22 December 2019

Miguel Luz Soares

1

1 reference

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22 December 2019

3

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22 December 2019

7

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Joel N Buxbaum

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22 December 2019

Daniel L. Kastner

6

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Daniel L Kastner

1 reference

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22 December 2019

4

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Gösta Holmgren

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22 December 2019

author name string

Teresa Coelho

2

1 reference

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22 December 2019

publication date

1 March 2004

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22 December 2019

European Journal of Human Genetics

1 reference

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22 December 2019

12

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22 December 2019

3

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22 December 2019

225-237

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22 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201095

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

An estimate of unique DNA sequence heterozygosity in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

21 January 2018

Haplotype analysis of familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

7 January 2021

based on heuristic

inferred from DOI database lookup

The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

7 January 2021

based on heuristic

inferred from DOI database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201095

7 January 2021

based on heuristic

inferred from DOI database lookup

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