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Article

Characterization of Point Mutations in Patients with X-linked Ichthyosis

1 Aug 1997

Abstract excerpt

X-linked ichthyosis is the result of steroid sulfatase (STS) deficiency. While most affected individuals have extensive deletions of the STS gene, point mutations have been reported in three patients (1). In this study, we identify an additional three point mutations and characterize the effects of all six mutations on STS activity and expression. All six are unique single base pair substitutions. The mutations...

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Identifiers

PMID: 9252398
DOI: 10.1074/jbc.272.33.20756

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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

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Research trail→

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Characterization of Point Mutations in Patients with X-linked IchthyosisPMID 9252398Read ↗

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.Semantic proximity Read ↗

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Molecular study of X-linked ichthyosis: Report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patientSemantic proximity Read ↗

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.Semantic proximity Read ↗

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.Semantic proximity Read ↗

Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population.Semantic proximity Read ↗

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Cardiac phenotype in children with X-linked ichthyosis (STS- sEDD): findings from a prospective cohortSemantic proximity Read ↗

X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogeneSemantic proximity Read ↗

Identification of point mutations in 41 unrelated patients affected with Menkes disease.Semantic proximity Read ↗

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