(Q48170108)

9 February 2018

title

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo (English)

1 reference

9 February 2018

hypohidrotic ectodermal dysplasia

main subject

1 reference

6

Jung Chul Kim

1 reference

9 February 2018

Moonkyu Kim

7

object named as

Moon Kyu Kim

1 reference

9 February 2018

author name string

Gun Yoen Na

1

1 reference

9 February 2018

Do Won Kim

2

1 reference

9 February 2018

Seok Jong Lee

3

1 reference

9 February 2018

Sang Lip Chung

4

1 reference

9 February 2018

Dong Jae Park

5

1 reference

9 February 2018

publication date

1 September 2004

1 reference

9 February 2018

published in

Pediatric Dermatology

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9 February 2018

volume

21

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9 February 2018

issue

5

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9 February 2018

page(s)

568-572

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9 February 2018

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

Involvement of a novel Tnf receptor homologue in hair follicle induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0736-8046.2004.21510.X

10.1111/J.0736-8046.2004.21510.X

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018