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.
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KEY WORDS: Xeroderma pigmentosum complementation group F, Single Nucleotide Polymorphism, Gastric cancer, H.pylori.
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