ABCA12 is the major harlequin ichthyosis gene (Q28257186)

8

0 references

Charles Mein

object named as

Charles A Mein

23

0 references

David P. Kelsell

object named as

David P Kelsell

25

0 references

author name string

Anna C Thomas

1

0 references

Tom Cullup

2

0 references

Elizabeth E Norgett

3

0 references

Tara Hill

4

0 references

Stephanie Barton

5

0 references

Beverly A Dale

6

0 references

Eli Sprecher

7

0 references

Aileen E Taylor

9

0 references

Robert S Wilroy

10

0 references

Celia DeLozier

11

0 references

Nigel Burrows

12

0 references

Helen Goodyear

13

0 references

Philip Fleckman

14

0 references

Karen G Stephens

15

0 references

Lakshmi Mehta

16

0 references

Rosemarie M Watson

17

0 references

Robert Graham

18

0 references

Roni Wolf

19

0 references

Anne Slavotinek

20

0 references

Madelena Martin

21

0 references

David Bourn

22

0 references

Edel A O'Toole

Journal of Investigative Dermatology

24

0 references

language of work or name

English

0 references

publication date

November 2006

0 references

published in

0 references

volume

126

0 references

page(s)

2408-13

0 references

issue

11

0 references

cites work

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Harlequin ichthyosis — A case report

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Base-calling of automated sequencer traces using phred. II. Error probabilities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Harlequin ichthyosis unmasked: a defect of lipid transport

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Harlequin fetus: a case report

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Three unusual siblings with Harlequin icthyosis in an Indian family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

The gene family of ABC transporters--novel mutations, new phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700455

7 January 2021

Identifiers

DOI

10.1038/SJ.JID.5700455

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

4684304

1015408758

0 references

Fatcat ID

release_buvhzo32h5gjnbertcwjl53xbq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/buvhzo32h5gjnbertcwjl53xbq

24 November 2022

mapped directly with Wikidata item

4684304

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference