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Article

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.

Human molecular genetics - 1 Sept 1995

Cleaver J E, Charles W C, Thomas G H, McDowell M L

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Topics

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Share to Alleles
Share to Amino Acid Sequence
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Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8541864
DOI: 10.1093/hmg/4.9.1685

Genes

XPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.PMID 8541864Read ↗

Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.Semantic proximity Read ↗

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.Semantic proximity Read ↗

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.Semantic proximity Read ↗

Nucleotide excision repair genes involved in xeroderma pigmentosum.Semantic proximity Read ↗

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.Semantic proximity Read ↗

Spotlight on 'xeroderma pigmentosum'.Semantic proximity Read ↗

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.Semantic proximity Read ↗

Excision repair in man and the molecular basis of xeroderma pigmentosum syndrome.Semantic proximity Read ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.Semantic proximity Read ↗

An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.Semantic proximity Read ↗

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Semantic proximity Read ↗

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.Semantic proximity Read ↗

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