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Article

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.

The British journal of dermatology - 1 Apr 2007

O'Regan G M, Zurada J, Martinez-Mir A, Christiano A M, Irvine A D

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

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Identifiers

PMID: 17263802
DOI: 10.1111/j.1365-2133.2006.07742.x

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.PMID 17263802Read ↗

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish TravellersSemantic proximity Read ↗

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.Semantic proximity Read ↗

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.Semantic proximity Read ↗

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.Semantic proximity Read ↗

Identification of mutations in the human hairless gene in two new families with congenital atrichia.Semantic proximity Read ↗

Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.Semantic proximity Read ↗

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.Semantic proximity Read ↗

Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair.Semantic proximity Read ↗

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.Semantic proximity Read ↗

A novel nonsense mutation and polymorphisms in the mouse hairless gene.Semantic proximity Read ↗

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.Semantic proximity Read ↗

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.Semantic proximity Read ↗

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