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Article

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.

Human molecular genetics - 1 Oct 1995

Satokata I, Uchiyama M, Tanaka K

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8595429
DOI: 10.1093/hmg/4.10.1993

Genes

XPA

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.PMID 8595429Read ↗

Characterization of a splicing mutation in group A xeroderma pigmentosum.Semantic proximity Read ↗

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.Semantic proximity Read ↗

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

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 ↗

Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.Semantic proximity Read ↗

Xeroderma Pigmentosum: Gene Variants and Splice Variants.Semantic proximity Read ↗

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

Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.Semantic proximity Read ↗

ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient.Semantic proximity Read ↗

Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.Semantic proximity Read ↗

Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.Semantic proximity Read ↗

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