(Q51717426)

10 April 2018

title

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (English)

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10 April 2018

7

Han G Brunner

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10 April 2018

author name string

Annemarie H van der Hout

1

1 reference

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Grétel G Oudesluijs

2

1 reference

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Andrea Venema

3

1 reference

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Joke B G M Verheij

4

1 reference

10 April 2018

Bart G J Mol

5

1 reference

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Patrick Rump

6

1 reference

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Yvonne J Vos

8

1 reference

10 April 2018

Anthonie J van Essen

9

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publication date

30 January 2008

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10 April 2018

European Journal of Human Genetics

published in

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volume

16

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issue

6

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10 April 2018

page(s)

673-679

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10 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5202012

exact match

0 references

cites work

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

Nonsense-mediated mRNA decay in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

On the distributions of frequencies of mutation to genes determining harmful traits in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

inferred from DOI database lookup

7 January 2021

based on heuristic

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202012

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5202012

1 reference

10 April 2018

PubMed ID

18231121

1 reference

10 April 2018