ABCA12 Is the Major Harlequin Ichthyosis Gene-Reference-Cited by-同舟云学术

ABCA12 Is the Major Harlequin Ichthyosis Gene

Published:2006-11 Issue:11 Volume:126 Page:2408-2413
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Thomas Anna C.,Cullup Tom,Norgett Elizabeth E.,Hill Tara,Barton Stephanie,Dale Beverly A.,Sprecher Eli,Sheridan Eamonn,Taylor Aileen E.,Wilroy Robert S.,DeLozier Celia,Burrows Nigel,Goodyear Helen,Fleckman Philip,Stephens Karen G.,Mehta Lakshmi,Watson Rosemarie M.,Graham Robert,Wolf Roni,Slavotinek Anne,Martin Madelena,Bourn David,Mein Charles A.,O'Toole Edel A.,Kelsell David P.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference17 articles.

1. Mutations in lipid transporter ABCA12 in Harlequin ichthyosis and functional recovery by corrective gene transfer;Akiyama;J Clin Invest,2005

2. Harlequin ichthyosis – a case report;Dahlstrom;Pathology,1995

3. Heterogeneity in Harlequin icthyosis, an inborn error of epidermal keratinisation: variable morphology and structural protein expression and a defect in lamellar granules;Dale;J Invest Dermatol,1990

4. Origin of the corneocyte lipid envelope (CLE): observations in Harlequin ichthyosis and cultured human keratinocytes;Elias;J Invest Dermatol,2000

5. Base-calling of automated sequencer traces using phred. II. Error probabilities;Ewing;Genome Res,1998

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