xeroderma pigmentosum complementation group F

xeroderma pigmentosum complementation group F

A rare autosomal recessive disorder (OMIM:278760) characterised by UV light sensitivity, increased risk of UV light-induced malignancy and, in some cases, neurologic disease.

Molecular pathology
Defects of ERCC4, which encodes an early component of the global genome nucleotide excision repair (NER) pathway, cause xeroderma pigmentosum complementation group F.
References in periodicals archive ?
Objective: We conducted a case-control study by genotyping three potential functional SNPs to assess the association of Xeroderma pigmentosum complementation group F (XPF) polymorphisms with gastric cancer susceptibility, and role of XPF polymorphisms in combination with H.
KEY WORDS: Xeroderma pigmentosum complementation group F, Single Nucleotide Polymorphism, Gastric cancer, H.
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