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English
ABCA12 is the major harlequin ichthyosis gene
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title
ABCA12 is the major harlequin ichthyosis gene
(English)
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author
Eamonn Sheridan
series ordinal
8
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Charles Mein
object named as
Charles A Mein
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23
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David P. Kelsell
object named as
David P Kelsell
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25
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Anne Slavotinek
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20
object named as
Anne Slavotinek
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author name string
Anna C Thomas
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1
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Tom Cullup
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2
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Elizabeth E Norgett
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3
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Tara Hill
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4
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Stephanie Barton
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5
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Beverly A Dale
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6
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Eli Sprecher
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7
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Aileen E Taylor
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9
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Robert S Wilroy
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10
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Celia DeLozier
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11
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Nigel Burrows
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12
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Helen Goodyear
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13
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Philip Fleckman
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14
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Karen G Stephens
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15
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Lakshmi Mehta
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16
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Rosemarie M Watson
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17
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Robert Graham
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18
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Roni Wolf
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19
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Madelena Martin
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21
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David Bourn
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22
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Edel A O'Toole
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24
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language of work or name
English
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publication date
November 2006
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published in
Journal of Investigative Dermatology
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volume
126
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issue
11
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page(s)
2408-13
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cites work
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Harlequin ichthyosis — A case report
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Base-calling of automated sequencer traces using phred. II. Error probabilities
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Harlequin ichthyosis unmasked: a defect of lipid transport
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Harlequin fetus: a case report
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three unusual siblings with Harlequin icthyosis in an Indian family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene family of ABC transporters--novel mutations, new phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.JID.5700455
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.JID.5700455
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4684304
Dimensions Publication ID
1015408758
0 references
Fatcat ID
release_buvhzo32h5gjnbertcwjl53xbq
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/buvhzo32h5gjnbertcwjl53xbq
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
OpenCitations bibliographic resource ID
4684304
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4684304
PubMed publication ID
16902423
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4684304
ResearchGate publication ID
6885744
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