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Article

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

Journal of dermatological science - 1 Mar 2013

Takeichi Takuya, Sugiura Kazumitsu, Matsuda Kazuyuki, Kono Michihiro, Akiyama Masashi

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Topics

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Share to ATP-Binding Cassette Transporters
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Share to Ichthyosis, Lamellar
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23200509
DOI: 10.1016/j.jdermsci.2012.11.004

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.PMID 23200509Read ↗

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.Semantic proximity Read ↗

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.Semantic proximity Read ↗

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.Semantic proximity Read ↗

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

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

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

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

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

ABCA12 is the major harlequin ichthyosis gene.Semantic proximity Read ↗

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

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.Semantic proximity Read ↗

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