Article
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
The British journal of dermatology - 1 Jul 2017
Takahashi Y, Endo Y, Kusaka-Kikushima A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji G, Furue M, Moriwaki S
Abstract excerpt
A certain relationship between XPA gene mutations and the severity of symptoms has been observed in patients with xeroderma pigmentosum group A (XP-A). Patients with mutations within the DNA-binding domain usually exhibit severe symptoms, whereas splicing mutations in the same domain sometimes cause very mild symptoms. This inconsistency can be explained by a small amount of functional XPA protein produced from...
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