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Article

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.

The British journal of dermatology - 1 Jul 2006

Rajpar S F, Cullup T, Kelsell D P, Moss C

Abstract excerpt

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Topics

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Share to ATP-Binding Cassette Transporters
Share to Codon, Nonsense
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Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Ichthyosis, Lamellar

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Source

Identifiers

PMID: 16792777
DOI: 10.1111/j.1365-2133.2006.07291.x

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.PMID 16792777Read ↗

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Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.Semantic proximity Read ↗

Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.Semantic proximity Read ↗

Harlequin Ichthyosis - A Case Report.Semantic proximity Read ↗

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.Semantic proximity Read ↗

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.Semantic proximity Read ↗

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.Semantic proximity Read ↗

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Semantic proximity Read ↗

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.Semantic proximity Read ↗

[The role in harlequin ichthyosis of mutations in lipid transporter ABCA12].Semantic proximity Read ↗

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunctionSemantic proximity Read ↗

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