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Article

Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.

The British journal of dermatology - 1 Apr 2003

Kato A, Fukai K, Oiso N, Hosomi N, Murakami T, Ishii M

Abstract excerpt

BACKGROUND: Netherton's syndrome (NS) is an autosomal recessive disorder characterized by trichorrhexis invaginata ('bamboo hair'), congenital ichthyosiform erythroderma and an atopic diathesis. NS has recently been shown to be due to a defect in the SPINK5 gene, encoding LEKTI, a 15-domain serine protease inhibitor. SPINK5 maps to chromosome 5q31-q32, and has been suggested to be a locus predisposing to atopy in...

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Source

Identifiers

PMID: 12752122
DOI: 10.1046/j.1365-2133.2003.05243.x

Genes

SPINK5

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.

Related research

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

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Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.PMID 12752122Read ↗

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Gene polymorphism in Netherton and common atopic disease.Semantic proximity Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese.Semantic proximity Read ↗

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.Semantic proximity Read ↗

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Semantic proximity Read ↗

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

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