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Article

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.

Archives of dermatology - 1 Jul 2006

Akiyama Masashi

Abstract excerpt

OBJECTIVES: To review recent advances in our understanding of the genetic pathomechanisms of harlequin ichthyosis (HI) (the most devastating subtype of congenital ichthyoses) and its prenatal diagnosis and to discuss the possibility of future gene therapy. DATA SOURCE: PubMed search for articles about HI, its causative protein adenosine triphosphate-binding cassette A12 (ABCA12), and related molecules. STUDY...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16847209
DOI: 10.1001/archderm.142.7.914

Genes

ABCA12
ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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