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ABCA12 is the major harlequin ichthyosis gene
Anna C. Thomas
, Tom Cullup
, Elizabeth E. Norgett
, Tara Hill
, Stephanie Barton
, Beverly A. Dale
,
Eli Sprecher
, Eamonn Sheridan
, Aileen E. Taylor
, Robert S. Wilroy
, Celia DeLozier
, Nigel Burrows
, Helen Goodyear
, Philip Fleckman
, Karen G. Stephens
, Lakshmi Mehta
, Rosemarie M. Watson
, Robert Graham
, Roni Wolf
, Anne Slavotinek
Madelena Martin, David Bourn, Charles A. Mein, Edel A. O'Toole, David P. Kelsell
*
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*
Corresponding author for this work
Queen Mary University of London
Agilent Technologies
International Centre for Life
University of Washington
Rambam Health Care Campus Israel
Leeds Teaching Hospitals NHS Trust
Newcastle upon Tyne Hospitals NHS Foundation Trust
University of Tennessee Health Science Center
University of Geneva
Cambridge University Hospitals NHS Foundation Trust
Birmingham and Solihull Mental Health NHS Foundation Trust
Schneider Children's Hospital
Our Lady's Hospital for Sick Children
James Paget University Hospitals NHS Foundation Trust
Kaplan Medical Center Israel
University of California at San Francisco
Research output
:
Contribution to journal
›
Article
›
peer-review
95
Scopus citations
Overview
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Keyphrases
ABCA12
100%
ABCA12 Gene
28%
Adenosine Triphosphate-binding Cassette Transporters
14%
Autosomal Recessive Congenital Ichthyosis
14%
Biallelic
14%
Epidermal Lipids
14%
Exon 8
14%
Frameshift mutation
14%
Granule Formation
14%
Harlequin Ichthyosis
100%
Heterozygous Deletion
14%
Impaired Barrier Function
14%
Intragenic Deletion
14%
Lamellar Granules
14%
Multiplex PCR (mPCR)
14%
Mutation Data
14%
Nonsense
14%
Oligonucleotide Array
14%
PCR Analysis
14%
Sequence mutation
14%
Severe Disease
14%
Single nucleotide Polymorphism (SNP) Genotyping
14%
Skin Diseases
14%
Substitution mutation
14%
Biochemistry, Genetics and Molecular Biology
ABCA12
100%
Adenosine Triphosphate
16%
Allele
16%
Autosomal Recessive Inheritance
16%
DNA Microarray
16%
Exon
16%
Frameshift Mutation
16%
Genotyping
16%
Lipid
16%
Multiplex Polymerase Chain Reaction
16%
Single-Nucleotide Polymorphism
16%